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2013 RECOMMENDATIONS OF THE

INTERNATIONAL ADVISORY BOARD MEMBERS

Orphanet Europe joint Action Contract 20102206

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Table of content

TABLE OF CONTENT ...................................................................................................................... 2

1. RECOMMENDATIONS FOR Y3 ............................................................................................ 3 1.1. Consultation Methodology .......................................................................................... 3 1.2. Recommendations collected ........................................................................................ 3

1.2.1 What is your assessment of Orphanet activities in 2012? ................................................ 3 1.2.2 What do you think of our scheduled projects for 2013? .................................................. 3 1.2.3 What direction would you recommend so as to meet the needs of the end-users? ....... 4 1.2.4 What are the assets of Orphanet in comparison with the other databases in the field? 4 1.2.5 Could you suggest collaborations which should be implemented to improve Orphanet

services? ............................................................................................................................................................. 5 1.2.6 Other comments ................................................................................................................ 5

2. INTERNATIONAL ADVISORY BOARD MEMBERS LIST ........................................................... 7

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1. Recommendations for Y3

1.1. Consultation Methodology Board members have been invited to provide comments on the 2012 Orphanet Activity Report, the 2012 Users’survey, the ongoing IT and non IT projects and the exhaustive communication list of the partners. They were asked to answer 5 specific questions detailed in the paragraphs below. This document results from the compilation of comments sent in writing by some of the board members

1.2. Recommendations collected

1.2.1 What is your assessment of Orphanet activities in 2012?

P. Garel: Very positive, in particular on new Orphanet homepage and new national websites. The expansion and the negotiation running are also promising. There is an impressive increase in the web audience and good results from the user satisfaction survey. It is not clear however what was done in 2012 in the Orphanet report series. It mentions what was available but it might have been produced previous years. A.Heathfield: It’s a very impressive list of achievements - maintaining the core activities and at the same time expanding involvement of other countries is very impressive. The work to support IRDiRC is also important – both in terms of getting that rather complex collaboration up and running, but also in helping to ensure that Orphanet continues to be the natural home for information about rare diseases and research. Work via IRDiRC will also help Orphanet increase understanding of what it does within US research institutions.

G.Pogany: This is a nice summary of a great year, congratulations! Despite of the general restrictions caused by the global financial crisis, Orphanet was able to finish again a very successful year. I think the new home page with the national websites; together with the expansion of the consortium are the most useful achievements of the year for the end-users. K. Westermark : Very good

1.2.2 What do you think of our scheduled projects for 2013?

P. Garel: A good project to upgrade the website and a promising partnership with EMA A.Heathfield: A good list. Updating the site is a major project and needs dedicated time and supervision – it’s easy to let these kinds of projects operate under management radar until something goes badly wrong, so making this a key focus of the organisation is vital. It is not clear where IRDiRC fits into the 2013 plans though. Orphanet’s role in IRDiRC is critical to get the collaboration operating well and continuing its early positive momentum. Are enough resources being given to this task?

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G.Pogany: It is a great programme again with full of important upgrades. From the point of view of patients, the two most important things are the - Indexing rare diseases with a disability thesaurus issued from the International Classification of Functioning (ICF), and the - Development of the Orphanet mobile application for Android K. Westermark: I fully endorse the projects proposed. I have particularly looked at potential collaborations with the EMA/COMP and also briefly discussed with Jordi Llinares. A collaboration on prevalence as suggested is a very important task and the outcome could be of great importance for applicants for orphan designation. In addition we would like to propose a project on the repurposing of drugs. Orphanet could be a central point for information on proposals or data gathering for drug repurposing. Since Orphanet has already developed means of bringing experts and researchers in contact, the same procedure could be used for drug repurposing to potential orphan medicinal products.

1.2.3 What direction would you recommend so as to meet the needs of the end-users?

P. Garel: Possibly by clarifying better what are the needs of end-users. The answers to Question 5 in the survey are giving limited information on needs. Unless you did it previously. A.Heathfield: With more and more information coming onto the site, and more links to external organisations and potentially information in different languages, search functions may become more important than hierarchical information flows on the site i.e. people may simply search for what they want rather than click through drop-down menus. I’ve not seen or heard of problems with the current search function, but any smart ideas on maintaining the functionality of searching across all the Orphanet and linked data may be increasingly important. G.Pogany: To establish the user satisfaction survey of the Orphanet website was a really useful step. It is obvious from the results, that a lot of users are not sufficiently informed about the range of the available services. Therefore, it would be better to involve somehow more (regularly) the patient organizations into spreading the information and give talks about the useful services. The stimulation and help of local teams could also be beneficial, that could help to decrease the shortage of financial and human resources at national level.

1.2.4 What are the assets of Orphanet in comparison with the other databases in the field?

P.Garel: Not in position to answer A.Heathfield: Scale and comprehensive coverage across so many diseases. Links to ongoing academic research. The focus on interoperability with especially many of the large genetics databases. G.Pogany: The Orphanet is one of the most important databases in the field, unquestionably! The main assets are the comprehensiveness, flexibility, the several services for all the interested stakeholder groups.

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K. Westermark: It’s comprehensive and has been constructed with respect to the needs of the users to an extent well beyond other databases.

1.2.5 Could you suggest collaborations which should be implemented to improve Orphanet services?

P.Garel: Maybe by working more closely with scientific medical societies to improve the advertisement of Orphanet services? A.Heathfield: Collaboration with emerging markets which are increasing their attention on rare diseases policy and also playing key roles in research may be useful, either directly via one-to-one collaborations with institutions in Brazil etc or via ICORD.

G.Pogany: It is not a necessity, but it is really useful to improve the global cooperation which is necessary in the field of rare diseases. It would be nice if the International Rare Diseases Research Consortium (IRDiRC) would contribute somehow to the support of international cooperation as a compensation of the workload of Orphanet Centre. K. Westermark: As pointed out under point 4, collaboration with EMA/COMP could be further explored – probably several other fields could be fruitful to explore than those already mentioned.

1.2.6 Other comments B.Mons : I am impressed by the overall achievements by Orphanet based on the activity reports sent to us and mainly based on http://www.orpha.net/orphacom/cahiers/docs/GB/ActivityReport2012.pdf Orphanet provides an invaluable resource to the scientific, the industrial and the patient/clinical community and deserves all the support it needs to be sustainable and to adapt to novel opportunities for even better communication. However, I also missed completely any plans or actions to embrace the incredible potential for Orphanet of the current semantic web technologies. My advise will be on this interesting new topic. I know that initial contacts have been made with Marco Roos in LUMC, but it seems that there are no particular plans to implement any of the ideas that have been floated in this report. So here is my advise: Given the aim of Orphanet to provide the community at large with a comprehensive set of information on rare diseases and orphan drugs Given that: Each disease is indexed with ICD10, OMIM, MeSH, SNOMED CT, UMLS etc. There is An encyclopaedia covering more than 4000 rare diseases, partly in different languages There is an inventory of orphan drugs at all stages of development There is a directory of expert resources in the 37 partner countries That Genes are now cross-referenced with Ensembl, Reactome and IUPHA The Orphanet ontology of rare diseases is now available on BioPortal The XML version of multiple languages is available on-line Genes are annotated as causative, modifiers (both from germline or somatic mutations), major susceptibility factors or playing a role in the phenotype (for chromosomal anomalies).

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These annotations represent a unique, added-value service for researchers and many others in the community. + Orphanet should embrace the semantic web opportunities that would make all valuable data and information elements shown below instantly interoperable with all other resources being developed, including for instance Open PHACTS (of which Orphanet is already an Associated Partner), many other IMI and ESFRI projects that will adopt semantic web technology and community standards. With all the ‘givens’ mentioned above, and notable all the mapping efforts to existing vocabularies, ontologies and databases already done by the Orphanet community this is relatively straightforward. All associations contained in for instance the pictures copied below, should become available in nanopublication format with full provenance (and link back) to Orphanet. Especially also the multiple language coverage, which is work in progress, would be sped up in minimally two ways: concepts can be shown in different languages in for instance English text, which will assist translators, but also, even before a full text might be available in a given language, search with the term in French for instance should lead to every piece of text that contains the concept, regardless of the language in which the text is composed. Even more importantly, direct coupling of this valuable information to dynamically developing knowledge bases such as for instance LOVD or GWAS central would be extremely valuable as well. I would be prepared to assist with a funding proposal for: Orphanet goes Semantic Web.

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2. International Advisory Board Members List

AMOS BAIROCH – UniProt and HON

HELMUT HINTNER – Clinical expert, rare genetic skin diseases, Salzburg University

PASCAL GAREL – HOPE

ADAM HEATHFIELD - PFIZER

BAREND MONS - Department of Medical Informatics, Erasmus Medical Centre, University of Rotterdam

GABOR POGANY – HUFERDIS Hungarian Rare Diseases Patient Alliance and EURORDIS

KERSTIN WESTERMARK – Committee on Orphan Medicinal Products, European Medicines Agency

HERMAN VAN OYEN - Head of the Unit of Epidemiology of the Scientific Institute of Public Health, Brussels

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ORPHANET 2011 ACTIVITY REPORT

ADDENDUM

Orphanet Europe joint Action Contract 20102206

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Table of content

1. PLANS FOR 2012 ............................................................................................................... 3 1.1. Evolution of the Orphanet consortium ........................................................................ 3 1.2. Evolution of products and services .............................................................................. 4

1.2.1. New products and services that will be developed in 2012 ......................................... 4 1.2.1.1. Translation of the international website into Flemish................................... 4 1.2.1.2. Translation of abstracts into Greek ................................................................ 4 1.2.1.3. New homepage ............................................................................................... 4 1.2.1.4. Internal tools to efficiently manage the workflow, to secure the servers and

to expand the ways to access data .............................................................................................................. 4 1.2.2. Evolution of previous products and services ................................................................ 5

1.2.2.1. Orphadata phase two ..................................................................................... 5 1.2.2.2. Orphanet Journal of Rare Diseases ................................................................ 5 1.2.2.3. Orphanet National Websites .......................................................................... 5 1.2.2.4. Orphanet Report Series ................................................................................... 5

1.3. Orphanet’s national international collaborations ....................................................... 6 1.4. Funding forecast /Governance ..................................................................................... 7 1.5. Communication strategy .............................................................................................. 7

2. SWOT ANALYSIS ............................................................................................................... 8 2.1. Strengths ....................................................................................................................... 8 2.2. Weaknesses .................................................................................................................. 8 2.3. Opportunities ................................................................................................................ 8 2.4. Threats .......................................................................................................................... 9

3. EXHAUSTIVE COMMUNICATION LIST (2011) .................................................................... 10

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1. Plans for 2012

1.1. Evolution of the Orphanet consortium Since its creation, Orphanet has grown as a European consortium (Europe and surrounding

countries). During 2011, discussions have taken place with five new countries to join the network:

Australia, Argentina, Brazil, China, Japan and Russia, at the request of these countries. We have

already had to define a strategy and a procedure to accept new non-European countries as

consortium partners as Canada applied successfully in 2010.

The principles that we defined are as follows:

- When an academic institution or a government office from a non-member country express

an interest in joining the Orphanet consortium, they receive the procedure detailing the

requirements and necessary steps to join the Orphanet consortium with the Orphanet

Standard Operating Procedures for them to understand the workload they would face, the

resources to identify, their options in term of commitment and the political implication of

their activities.

- When the official letter of application demonstrating the capacity to run the activities

according to the SOPs with national funding and the letter of endorsement from the national

health authorities are received by the coordinating team, the application is submitted to the

management board for eligibility and then submitted to the Steering Committee for a final

decision.

In terms of strategy we are less sure of what to do, as accepting new countries, outside the European

contract, means that we accept extra work without extra resources, as we have to accompany the

new national team, give the necessary training and carry out the quality control, absorb the workload

due to translations, convert the database to UTF8 and adapt the search engine to non-latin alphabets

etc... Of course Orphanet data should be as international as possible as its clients are from all

countries worldwide, and it should be available in as many languages as possible. However we need

to identify new sources of financing to support this geographical expansion. We tried to ask these

new partners to contribute financially to the central facility costs, but none of them were in a

position to divert the little money they have for this purpose.

Question to the IAB: Do you foresee this expansion as necessary? Which kind of financial support would be appropriate?

Applications validated by the management board and steering committee:

The Japanese team is foreseen to start working in April 2012 and will be hosted by the

National Institute of Health. They will translate the website into Japanese and they propose

to set up a replication node in Tokyo.

The Australian team will also start working in 2012; it will be hosted by the department of

Health of the Government of Western Australia.

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Application to be validated for eligibility by the management board:

The Chinese team will be hosted by the Shandong Academy of Medicine. They are currently

preparing the work plan on how to implement Orphanet in China, this document will be

available in April 2012 and it will be submitted to the management board for validation.

The Brazilian team will be hosted by the Porto Alegre Hospital; the management board is

currently waiting for the letter of endorsement of the health authorities to validate their

application.

In Argentina the office of Rare diseases of the Ministry of Health has expressed an interest in

hosting an Orphanet team; no official letter has been received.

In Russia the Research Centre for Medical Genetics of the Russian Academy of Medical

Sciences has expressed an interest in hosting an Orphanet team; no official letter has been

received so far.

1.2. Evolution of products and services

1.2.1. New products and services that will be developed in 2012

1.2.1.1. Translation of the international website into Dutch Specific funding has been assigned in Belgium, in the context of the Belgium national plan, for the translation of the database, and it will start in March 2012. The online publication of the international website is expected by the end of 2012.

1.2.1.2. Translation of abstracts into Greek Funding has been obtained by Keelpno for the translation of the Orphanet abstracts into Greek, the translation of the abstracts will start in the forthcoming months and publication online in the detailed information section at the bottom of the disease page will be carried out.

1.2.1.3. New homepage The layout of the Orphanet international website is currently being redesigned, to increase the visibility of all our products and services, and better define what the different stakeholders can expect from the portal.

1.2.1.4. Internal tools to efficiently manage the workflow, to secure the

servers and to expand the ways to access data The architecture of the servers will be modified to increase the security of the data and to allow the development of new ways to enter and publish the data. New tools to manage the workflow will be developed in order to follow-up on the processes of production of the inventory of RD, the indexing, the Encyclopaedia, the translations, the collections and validation of data for the directory of services. These tools will also apply to the electronic management of scientific activity reports, standard operating procedures report, financial activity reports, and communication tools (leaflets, posters, power points presentations). A new search tool in natural language will be implemented to increase the user-friendliness of the websites.

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1.2.2. Evolution of previous products and services

1.2.2.1. Orphadata phase two All the institutions having signed a MTA will be able to securely access all the products they have requested directly through the Orphadata website in a private section “MyOrphaData”.

1.2.2.2. Orphanet Journal of Rare Diseases Up to now the editorial office of the OJRD was managed at Orphanet, at Orphanet’s cost, in order to launch the journal and motivate experts to write up review articles. As the journal is a success, with an >Impact actor of 5.93, it is not necessary to do so anymore. We negociated a new deal with the publisher, BioMed Central. The cost of publishing an article for the authors will increase so as to provide a small return to Orphanet to compensate for the workload.

1.2.2.3. Orphanet National Websites By the end of 2012 all the national teams will have developped an Orphanet National Website in their national language(s).

1.2.2.4. Orphanet Report Series We plan to increase the number of reports published as PDF documents as they are very popular. These are user-friendly presentations of data already collected in the database. As we cannot dedicate human resources to produce new documents, we plan to develop an automatic process, using the following steps and tools:

EXOR EXOR means « EXtraction ORphanet ». It is a Graphic User Interface designed to construct any kind of request, without SQL knowledge. Requests could be one shot or kept for re-using or sharing and can be designed to make pre-formated “products”, available on the Orphadata website (public website). Results are in XML, directly accessible on-screen or downloadable. Requests for Orphadata products are modeled in Exor and stocked as « jobs ».

JDBOR JDBOR means « Java Database ORphanet ». This is an extraction/loading from the Orphanet relational database on a dedicated server in order to protect the main server hosting the Orphanet website. It is mounted in RAM for quick requests of any kind and designed for different types of access. Jobs are « played » once a month by scripts into the JDBOR client. JDBOR produces XML files in response. XML files are put on the Orphadata.org website and can be post-processed, then put on the website (in different format if needed). It is possible to access other sources than JDBOR in a job (for instance .txt files from the Orphanet ETL)

Archiving processing Previous file versions are kept available To produce the Orphanet Report Series in the future, the .xml file will be transformed by a “Talend”

job (java application) to reorganise .xml tags or any needed processing. Altova XMLSpy will be used

to create a proper DTD schema. Altova Stylevision will be used to manipulate xml files to generate

style sheets for rtf, html or pdf output. This process can be batched or launched on demand.

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www.orpha.net

PRODUCTION PROCESS

JOB XML REQUESTS

JDBOR (java)

XML FILESPost Processing

(XML, WORD, PDF…)

ORPHADATA WEBSITE

Archives FILES

MonthlyFILESORPHANET

DB

JOB other REQUESTS

Post Processing

(TXT)

EXOR

monthly

monthly

Question to the IAB: Is this approach the optimal one?

1.3. Orphanet’s national international collaborations

Collaboration established previously will continue, (European Commission, WHO, UMLS, Eurogentest, IUPHAR, EBI,...).

New collaborations are foreseen:

- With GARD, the Genetic and Rare Diseases Information Center of the NIH which wishes to update their Rare Disease list in collaboration with us.

Question to the IAB: How to protect our IP as the collaboration is a unilateral one as Orphanet does not gain any advantage from this collaboration?

With OpenPhacts, which proposes to create a tool specific for data to turn them into an interoperable nanopublication format.

Question to the IAB: Do you suggest other collaborations?

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1.4. Funding forecast /Governance Funding for Orphanet core activities is expected to increase in 2012 as new funding has been identifed. Funding for national activities also will increase in 2012 as several funding opportunities have been identified in addition to the ones previously established in Greece, Belgium and Italy. The budget is still very unsufficient: both in terms of the update of website content and in terms of the budget necessary to develop partnerships with countries outside Europe.

Question to the IAB: What are your recommendations in terms of sources of funding that we should consider, or can you suggest alternative funding strategy?

The Orphanet consortium is not a legal entity but a network of academic institutions accepting to host this international project.

Question to the IAB: Do you see that as a weakness ? If yes, what type of status would you suggest?

1.5. Communication strategy

The 4 leaflets will be updated to reflect the changes in the Orphanet consortium.

Orphanet will be present at more than 50 congresses in 2012

A Booth will be held at the ESHG in Nuremberg in June 2012

A Symposium on RD will be organised in Montreal during the Fall 2012 by the Coordinating team and the Orphanet – Canada team

Question to the IAB: Any other suggestions ?

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2. SWOT ANALYSIS

2.1. Strengths Orphanet has a good reputation worldwide as a reliable source of information on RDs and Orphan Drugs (it is cited in EU documents as a valuable source of information, in numerous scientific papers as a reference source of information, it is cross-referenced with other databases and it is also commissioned by WHO to provide data on RDs). On the other hand this could also be considered a weakness as, because of Orphanet’s reputation, people often assume there is a bigger budget. Orphanet is also extensively used by our target audience as showed by the annual user survey. Moreover Orphanet has a strong institutional support such as the INSERM, the French Ministry of Health, and it also benefits from the support of most EU Member States via the Joint Action. The strong institutional support makes more countries interested in joining the network.

2.2. Weaknesses

One of the major weaknesses of the consortium is the lack of a legal entity: Orphanet is perceived as a well-established institution, although it is not; it is a Consortium of Institutions and from a legal point of view, it is only a TRADEMARK owned by INSERM. Another weakness is the complex governance of the consortium as Orphanet funding comes from over 15 different contracts and the Joint Action represents only 30% of the funding. For this reason the governance of the JA cannot cover the governance of all other contracts. The short-term contract funding scheme implies that Orphanet has no business model to ensure its long-term sustainability and this of course affects the sustainability of teams and makes it difficult to plan activities and to attract good professionals. The insufficient funding causes a relatively high turn-over of professionals (also because of the short-term contracts), insufficient updates of the encyclopaedia, and in addition it makes it difficult to manage the translation process when more languages will have to be added, and to face the technological challenges associated to these additions.

2.3. Opportunities The JA is the relevant instrument to support the Council Recommendation of 8 June 2009 and the national plans for RD to be implemented by 2013. In fact, the JA requires the commitment of national teams which are fully responsible for collecting and validating information on expert services and disseminating information on national policies and initiatives. Moreover, when funding is available it is an opportunity to translate the website into more languages.

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Finally, each Member State benefits from the core structure already developed and funded by the French Government, and has the opportunity to offer its citizens a national portal at marginal costs. Development of web 3.0. Development of working groups and consortia for expert information production on RDs directly accessible on the web, which will ease Orphanet tasks. The re-use of Orphanet data by other research groups will contribute to quality control and will maximize the social utility of the database.

2.4. Threats Partners may not be satisfied due to the shortage in human resources to accomplish all the missions which have been assigned to them. Teams may face a burn-out by lack of resources and strong pressure from the end-users and funding agencies. Governance of the JA can be ineffective as not proportionate to the multiple challenges and the timeframe for making decisions. The multiplication of other EU disease-specific projects may lead to the fragmentation of information and data if the EU and the executive agency do not set a policy to encourage collaboration between projects. The French agencies may stop being willing to fund core activities if other countries do not contribute as well. New languages with a different structure may prove to be too big a challenge, especially for the optimisation of the search engine. The addition of several new languages may create too big of a challenge in a context of insufficient funding. The willingness of new countries to join the consortium may quickly pose a major challenge in the absence of sufficient resources to ensure the training, supervision and quality control of their activity.

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3. Exhaustive communication list (2011)

Orphanet oral presentations and posters

January 2011 S. Aymé “EC initiatives in the field of Rare Diseases” Rare Diseases – Connecting Phenome, Genome and Pathways. EBI seminar, Cambridge, 26 January 2011 S. Aymé “Structure of the Orphanet database.” Rare Diseases – Connecting Phenome, Genome and Pathways. EBI seminar, Cambridge, 26 January 2011 S. Aymé “Overview of the Rare Disease Research in Europe: achievements and further needs” Forum on Rare Disease Research in Belgium, Brussels, 28 January 2011 M.E.Mateo “Information on rare diseases: Orphanet portal” Keys for the assistance in primary care on rare diseases, CSISP, Valencia, Spain, 13 January 2011 L. D'Amato Sizonenko "Maladies Rares: un enjeu de santé publique" Conférences SEI - Service Educatif Itinérant, Geneva, Switzerland, 17 January 2011 J.Sequeiros “ORPHANET: o portal de referência para as doenças raras e os medicamentos órfãos (the reference database for rare diseases and orphan drugs)” . “Os Doentes em Primeiro Lugar” (Patients Come First) meeting. IPATIMUP, Porto, 26 January 2011 E. Swinnen “Status of Orphanet Belgium in recording Belgian research activities” Forum on Rare Disease Research in Belgium, Brussels, Belgium January 28, 2011

D.Donnai “Charter Day Lecture” National Maternity Hospital Dublin, Ireland, 28 January 2011 February 2011 A Rath “Que faire en cas de suspicion d’une maladie rare?” 25° Rencontres de Rhumatologie Pratique, Paris, France, 3-4 February 2011 B. Dallapiccola Presentation of the Orphanet Italy book Orphanet Italy 10

th anniversary, Italian Ministry of Health, Rime, Italy, 10 February 2011

M.Arles “Orphanet: The reference portal for information on rare diseases and orphan drugs in Europe”. Conference at the General Hospital of Granollers, Barcelona, Spain, 10 February 2011

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M.Stuhrmann “Programmes and Organisations promoting R&D in orphan drugs” 4th Berlin Conference on IP in Life Sciences „Rare Diseases – Blockbusters in the niche“, Berlin, Germany, 18 February 2011 D. Gavhed and A. Larsson “Presentation of Orphanet” Rare Disease Research Forum – Challenges and Solutions, Karolinska Institutet, Stockholm, Sweden, 21 February 2011 A.Sierto “Orphanet: The reference portal for information on rare diseases and orphan drugs in Europe” III CIBERER meeting “to research is to advance”, Madrid, Spain, 23 February 2011 J.Sequeiros “ORPHANET - The importance of quality and EQA ” EMQN assessors meeting. Porto, 24-25 February 2011. J.Sequeiros “ORPHANET: o portal de referência para as doenças raras e os medicamentos órfãos em Portugal e em português (the reference database for rare diseases and orphan drugs in Portugal and in Portuguese)”. “Rare but Equal” conference. Porto, 26 February 2011. K. H. Chrzanowska 1. “Nijmegen breakage syndrome – rare cancer prone disease”. 2. “Warsaw breakage syndrome – new entity” Progress in Education in Clinical Immunology – The 6

th Winter School of Clinical Immunology, Zakopane, Poland

24-26 February 2011 J.Sequeiros “ORPHANET: o portal de referência para as doenças raras e os medicamentos órfãos em Portugal e em português (the reference database for rare diseases and orphan drugs in Portugal and in Portuguese)”. “Rare but Equal” conference. Porto, 26 February 2011. J.Sandor “ORPHANET in Hungary” Rare Diseases Awareness Day, Budapest, Hungary, 28 February 2011 L.Basel-Vanagaite “Orphanet in Israel” Organization of the first one day Israeli Rare Diseases Day Meeting –Petah Tikva, Israel, February 28

th 2011

March 2011 C. Rusu

“Orphanet – a Reliable Support for Daily Practice”

Rare Disease Day, Iasi, Romania, 5 March 2011 M.Arles “Orphanet: the reference portal for info on rare disease and orphan drugs in Europe” Master course “Current knowledge of Rare diseases”, International University of Andalucia and Pablo de Olavide University, Sevilla, Spain, 11 March 2011 S.Peixoto , J.Pinto-Basto , J.Sequeiros "ORPHANET-PT: o portal de referência para as doenças raras e os medicamentos órfãos em Portugal e em português (the reference database for rare diseases and orphan drugs in Portugal and in Portuguese)” 2nd Rare disease Symposium of Portuguese Society of Internal Medicine. Tomar, 11-12 March 2011

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G. van Ommen Translational genomics, integrating rare and common disease 15

th Human Genome Meeting, 4

th Pan Arab Human Genetics Conference, March 14-17, Dubai, Dubai.

J.Pinto-Basto “ORPHANET em Portugal e em português (ORPHANET in Portugal and in Portuguese)”. Meeting of the Medical Genetics Board for Residents. Hospital D. Estefânia, Lisboa, 18 March 2011 G. van Ommen Antisense-based exon skipping as a therapy for Duchenne Muscular Dystrophy, status and prospects 20. Kongress des Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke, March March 30-31, Ulm, Germany. D.Donnai "Introduction to Nowgen projects'' (including Orphanet UK) Presentation to Genzyme UK Directors, Manchester, UK, 15 March 2011 J.Pinto-Basto “ORPHANET em Portugal e em português (ORPHANET in Portugal and in Portuguese)”. Meeting of the Medical Genetics Board for Residents. Hospital D. Estefânia, Lisboa, Portugal, 18 March 2011 K. H. Chrzanowska, M. Krajewska-Walasek Orphanet Europe Joint Action Grant (2011-2013) – background and aims, the platform for cooperation with the whole Polish clinical genetic society. Dysmorphological meeting in the Children's Memorial Health Institute Warsaw, Poland, 23 March 2011 A. Jezela-Stanek Dysmorphic syndromes with chondrodysplasia punctata features . Dysmorphological meeting in the Children's Memorial Health Institute Warsaw, Poland, 23 March 2011 V.Hivert Maladies Rares Un enjeu de société Course for medical students, Hôpital Cochin, Université Paris descartes, France, 31 March 2011 April 2011 R. Salonen “A Finnish view on inherited diseases and Orphanet database” University of Jyväskylä, Department of Health Sciences, Jyväskylä, Finland, 8 April 2011 S. Aymé “The power of information in the field of rare diseases” Rare Diseases symposium, Freemantle, Australia, 18 April 2011 S.Peixoto “R&D of rare oncologic disorders in Portugal: an overview based on data from the Orphanet database” Porto Cancer Meeting , Porto, Portugal, 28-29 April 2011 B. Dallapiccola “Lecture on rare diseases” Specialisation School of Siena University , Siena, Italy, April 5 2011.

B. Dallapiccola “Where is genetics going after genome sequencing?“ Nobile Collegio, Rome, Italy, April 14 2011

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G. van Ommen Translational genomics: bridging common and rare diseases Advances in targeted therapies, Dubrovnik, Croatia, April 7 2011. S.Peixoto , J.Pinto-Basto , J.Sequeiros “R&D of rare oncologic disorders in Portugal: an overview based on data from the Orphanet database” Porto Cancer Meeting, Porto, 28-29 April 2011 May 2011 T.Sarkisian ” Orphanet-Armenia in health care system” Launch of the Orphanet-Armenia Rare Disease Conference, Yerevan, Armenia, 27 - 29 April 2011. A.Rath “Genomics, proteomics and bioinformatics applied to the study of rare diseases” Genome Spain workshop 2011, Malaga, Spain, 3-4 May 2011. B. Dallapiccola “Lecture on rare diseases” Ferrara , Italy, May 7 2011 G. van Ommen Antisense-based exon skipping as a therapy for Duchenne Muscular Dystrophy, status and prospects - 2

nd

EMBO Congress “The molecular and cellular mechanisms regulating skeletal muscle development and degeneration”, May 10-14, Wiesbaden, Germany.

D.Donnai

“Genetic Medicine - Possibilities and Promises”, Floating Hospital for children, Boston, USA, 18 May, 2011 G. van Ommen Translational genomics: bridging common and rare diseases Symposium in the memory of Leena Peltonen, A global view of disease genomics, May 18-19, Helsinki, Finland. M.Stuhrmann-Spangenberg “ Networking of rare diseases in Europe: Orphanet and other initiatives. 1st Baltic Paediatric congress, Vilnius, Lithuania, May 19 – 21” M.C. Cornel “Databases en netwerken, Orphanet als voorbeeld” Lecture for Pediatricians (Kinderartsen erfelijke en aangeboren afwijkingen), Meander Medisch Centrum, Amersfoort, the Netherlands, 19 May 2011 V.Hivert "Presentation of the RD Platform fact-finding study on the determinants of rare disease research trends" Membership Meeting of Eurordis, Amsterdam, Netherlands 13-14 May 2011 Peixoto S, Pinto-Basto J, Sequeiros J “R&D OF RARE DISORDERS IN PORTUGAL: AN OVERVIEW BASED ON DATA FROM THE ORPHANET DATABASE”. XII Meeting of the Portuguese Neuroscience Society. Lisbon, 26-28 May 2011. M.Krajewska-Walasek “Genetic problems in paediatric cardiology” Course for paediatric cardiologists in the Children's Memorial Health Institute, Warsaw, Poland, 27 May 2011

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I.Gomez Paramio “Orphanet UK 2011: More information, more specific and easier to retrieve” European Society of Human Genetics Conference 28-31 May 2011, Amsterdam, Netherlands M. Macek „Legal issues of genetic testing in the Czech Republic“. WS04. Community Genetics and Legal Issues, European Human Genetics Conference, Amsterdam, 29 May 2011

B. Dallapiccola

Workshop on “Mass Media and Rare Diseases”

Civitavecchia-Gaeta,Italy, May 31-June 4, 2011

June 2011

B.Dallapiccola

” Genetic tests: from diagnosis to ethical issues”

Italian Society of Paediatrics 67° National Conference ”Children between voices and colours”. Milan, Italy June

9, 2011

Krajewska-Walasek

“Role of the abnormalities in the epigenetics growth regulation in the pathogenesis of microsomia and

gigantism”

Congress of the Polish Pediatric Society, Szczecin ,Poland, 9-11 June 2011

R. Salonen “Introducing Orphanet” Preparative meeting of the foundation of the Finnish umbrella organization for patients with rare diseases, Väestöliitto, Helsinki, Finland 10 June 2011 V.Hivert “What’s new on Orphanet?” COMP Meeting - EMA – London, UK, 10 June 2011

B.Dallapiccola

“Predictive medicine“

8th

International Health Forum, SANIT “Communication challenges of rare diseases”, Rome, June 14-17, 2011

D.Donnai

“Dysmorphology workshop”, European Human Genetics Society Conference, Amsterdam, The Netherlands, 14

and 15 June, 2011 M. Krajewska-Walasek Recognition of Beckwith- Wiedemann syndrome Dysmorphological meeting in the Children's Memorial Health Institute, Warsaw, Poland 15 June 2011 J. Pinto Basto “Genetic counseling” Paramyloidosis Day" (Dia de Luta Nacional Contra a Paramiloidose) Porto, 16 June 2011

B.Dallapiccola

“Rotary and Rare Diseases – State of the Art and Operative Proposals”

Workshop Rotary and Rare Diseases – State of the Art and Operative Proposals), Collegium Seraficum Rome,

June 17, 2011

15

B.Dallapiccola

“Introduction speech”

Medical genetics course, Bambino Gesù Paediatric Hospital Rome, June 23-24, 2011

M. Macek „Activities of ESHG and Orphanet with regards to rare diseases in nephrology“. European Renal Association Congress – ERA-EDTA Prague, Czech Republic June 23-26 2011

B.Dallapiccola

” Lectio Magistralis: Genetic tests: from diagnosis to personalized medicine“

University Scientific Days, SUN-Second University of Naples, Naples,Italy June 27, 2011. M.Macek „Organization of care for genetic diseases in a diverse Europe“ 36

th FEBS Science and Society Congress, Torino, Italy June 28 2011

G. van Ommen Progress in exon skipping for Duchenne Muscular Dystrophy and the future of RNA-based genetic therapy 36

th FEBS Congress “Biochemistry for tomorrow's medicine”, Torino, Italy, June 28 2011.

H.Jansen « Belgium healthcare system » 12th Orphanet Forum for Patient Organisations, Paris, France, 30 June 2011 S. Aymé « La prise en charge des maladies rares en France. » Journée Maladies de Gaucher. Paris, France 30 June 2011 S.Aymé « Mesurer les effets des politiques de santé » XIIe Forum Internet et les maladies rares : Partager les données de santé pour une meilleure prise en charge , Paris, France, 30 June 2011. M.Hanauer « Services Orphanet pour les associations » XIIe Forum Internet et les maladies rares : Partager les données de santé pour une meilleure prise en charge, Paris, France, 30 June 2011. V.Hivert « Où en sont les registres ? » XIIe Forum Internet et les maladies rares : Partager les données de santé pour une meilleure prise en charge , Paris, France, 30 June 2011.

July 2011 M. Krajewska-Walasek, K. Chrzanowska, A. Jezela-Stanek “Submicroscopic subtelomeric chromosomal imbalances underlying the mental retardation/developmental delay associated with dysmorphic features and/or multiple congenital anomalies. A diagnostic strategy combining MLPA, FISH and array-CGH in a cohort of 273 Polish patients” 8th European Cytogenetics Conference, Porto, Portugal 2-5 July 2011 Sandra Peixoto “Orphanet services”, MENTAL RETARDATION: FROM CLINIC TO GENE AND BACK (2nd Edition) - post-graduation course, Life and Health Sciences Research Institute (ICVS) Universidade do Minho, Braga, 4-8 July 2011

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B.Dallapiccola

Course “Genetic tests: from diagnosis to prediction of disease risk (personalized medicine)” (Bioethics 40 years

after: between the experience of the past and the challenge of the future)

Pontifical Athenaeum Regina Apostolorum, Rome, Italy July 7, 2011 M.Stuhrmann-Spangenberg „Nationales Aktionsbündnis für Menschen mit seltenen Erkrankungen (NAMSE)“. 6. Sitzung der Lenkungsgruppe des Nationalen Kompetenzbasierten Lernzielkatalogs Medizin (NKLM), Berlin, Germany, July 6 2011

B.Dallapiccola

“Experiences of existing registries (lessons learned: difficulties, opportunities, weaknesses, strengths)”

The Istituto Superiore di Sanità (ISS) 1st EPIRARE Meeting, Rome, Italy July 11, 2011 August 2011 S. Aymé “Newborn screening in Europe : What can be expected in the next years.” 7

th European Neonatal Screening Regional Meeting, Geneva, Switzerland, 28 August 2011

September 2011 I.Gomez Paramio poster “Orphanet: More comprehensive information about rare diseases in the UK” University of Warwick, 6th British Society Human Genetic (BSHG) Conference, 6 September 2011 S. Aymé “The challenge of rare diseases.” Collaborative Curation of the Variome, Welcome Trust Conference centre, Hinxton, UK, 1 September 2011 M.Macek „Activities of ESHG and ORPHANET and current trends in molecular genetic diagnostics“ Czech Medical Genetics Society Conference, Trebon – Czech Republic, September 7-9 2011 B.Dallapiccola “ Genetic testing: moving from diagnosis into diseases prediction" Second International Conference on Bioethics "Which role for bioethics in clinical practice?" The Diocese of Noto, 9 September 2011 B.Dallapiccola round table "Cryopreserved embryos: the Ethics of small things to be able to serve the human being". Second International Conference on Bioethics "Which role for bioethics in clinical practice?" The Diocese of Noto, 9 September 2011 G. van Ommen Antisense oligonucleotides for neurological diseases - 15

th EFNS Congress, September 11-13, Budapest,

Hungary. M.Macek „Overview of activities of ESHG and Orphanet“ 9th Balkan Congress of Medical Genetics, Timisoara, September 15-17 2011 E. Nyoungui “Orphanet presentation” Meeting of the Networks for Rare Diseases funded by the German Federal Ministry for Education and Research” Munich, germany 20 September 2011

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B.Dallapiccola "Williams syndrome guidelines" National Congress on Williams Syndrome, Rome, September 24 2011

M. Krajewska-Walasek

“Dysmorphic child in paediatric practice. Presentation of Orphanet”. Course for paediatricians in the Children's

Memorial Health Institute, Warsaw, Poland 26 September 2011 M.Arles “Orphanet presentation” IX Congress of the Spanish Association for the Study of Inborn Errors of Metabolism (AECOM), Valencia, Spain 28-30 September 2011 October 2011 M.E.Mateo “Orphanet presentation” Course “Rare diseases: research, clinical care and social awareness” School of Health Studies Valencia, Spain 5 October 2011 F. Cisarik Rare diseases - National strategies and plans in Slovakia. Izakovič memoriál meeting of the Slovak Society for Human Genetics. 6.-7.October 2011 T. Foltánová Current options for the treatment of rare diseases. . Izakovič memoriál meeting of the Slovak Society for HUman Genetics. 6.-7. October.2011 S. Aymé Table ronde “Current and emerging sequencing technologies” International Congress of Human Genetics, Montréal 10-15 October 2011 G. van Ommen Antisense based exon skipping as a therapy for DMD and other disorders International Congress of Human Genetics, October 11-15, Montreal, Canada. S.Aymé, A.Rath, A.Olry, B.Bellet “International effort to introduce genetic diseases in the international Classification of Diseases and promote cross-referencing” International Congress of Human Genetics, Montréal 10-15 October 2011 F. Dhombres, S.Aymé, A.rath, A.Olry, PY. Vandenbussche, J.Charlet “Automated generation of disease classification supported by Orphanet Ontology of rare Diseases” International Congress of Human Genetics, Montréal 10-15 October 2011 M.Jovanovic, E. Dequeker, A. Mondelaers, M.Morris, J. Cassiman and S.Aymé “An overview of the genetic testing offer in Europe” International Congress of Human Genetics, Montréal 10-15 October 2011 M. Krajewska-Walasek “The aCGH technique in dysmorphology practice” V Polish Conference "Problems of diagnosis, rehabilitation and development of a disabled child", Lublin , Poland 13-15 October 2011 A.Jezela-Stanek "Dysmorphic syndromes with minimal physical signs “ V Polish Conference "Problems of diagnosis, rehabilitation and development of a disabled child", Lublin , Poland 13-15 October 2011

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I.Gomez Paramio “Orphanet presentation” Bioinformatics for Clinical Geneticists” course The Nowgen Centre, Manchester, 18 October 2011 L. D'Amato Sizonenko “The problem of rare diseases in Switzerland and Orphanet presentation” Training seminar of the department of internal medicine at the University Hospital of Geneva Geneva, 20 October 2011 R. Salonen “Orphanet database – a history and current services” Scientific Advisory Board Meeting, Väestölitto, Helsinki, Finland, 20 October. G. van Ommen Seminar "Translational genomics: bridging common and rare diseases" Uppsala University, Denmark, October 24 2011 S. Aymé ”Development of the European portal of rare diseases and orphan drugs.” Rare Diseases Conference, Luxembourg, 26 Octobre 2011 M. Stuhrmann-Spangenberg "Orphanet and other initiatives - Networking of rare diseases in Europe" 2

nd South Caucasian Conference on Rare diseases and Orphan Drugs, Tblissi, Georgia, October 27 – 28 2011

November 2011 S. Aymé “ Precompetitive tools and resources for leveraging R&D in Europe” RARE 2011, Montpellier, 2-4 November 2011 S. Aymé “Rare Diseases and International nomenclature” RARE 2011, Montpellier, 2-4 November 2011 S. Aymé “Networking between expert centers” RARE 2011, Montpellier, 2-4 November 2011 S. Aymé “The cross border health care directive and implication in RD” RARE 2011, Montpellier, 2-4 November 2011 A.Rath “Operability of databases-data mining tools” tutorial workshop, RARE 2011, Montpellier, 2-4 November 2011 S. Aymé “Operability of databases-data mining tools” tutorial workshop, RARE 2011, Montpellier, 2-4 November 2011 B. Dallapiccola “Neonatal screening: an exchange of opinions”2nd National Congress for Sanitary Research, Cernobbio Italy November 7 2011

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G. van Ommen Translational genomics: integrating rare and common diseases Treat NMD meeting, Geneva, Switzerland 8-11 November 2011 S. Aymé European Reference Networks of Centres of Expertise: using the experience of the rare disease pilot networks as a way forward. EUPHA conference, Copenhagen, Denmark, 10 November 2011 M. Stuhrmann-Spangenberg “Orphans in medicine or already mainstream? Rare diseases in Germany and Europe” Annual Lower-Saxony human genetics meeting, Goettingen, Germany, 12 November 2011 Peixoto S, Pinto-Basto J, Sequeiros J “Orphanet-PT: The reference portal for rare diseases and orphan drugs in Portugal”. 15

th Annual Meeting of

the Portuguese Society for Human Genetics (SPGH). Lisbon, 10-12 November 2011. B. Dallapiccola, Cocchiara E., Di Giacinto M., Festa S., Lauretti T., Mingarelli R. “Orphanet: evolution of a web site” 16

th SIGU Italian Society of Human Genetics, Milan, Italy 14-15 November 2011

B. Dallapiccola “Genetic testing: towards personalized medicine?” 16

th SIGU Italian Society of Human Genetics, Milan, Italy 14 November 2011.

S. Aymé Diagnostic des maladies rares : Etat des lieux et perspectives. 1

er Forum Recherche pour les associations de maladies rares, Génocentre d’Evry, France 18 Novembre 2011

M. Arles “Orphanet presentation” VII Annual Conference of the Spanish Association for the Information and the Research of genetic renal

diseases (AIRG-E), Barcelona, Spain 19 November 2011 B. Dallapiccola

“Research in Pediatrics”

Second theoretical and practical seminary for pediatricians of Bambino Gesù Pediatric Hospital, Rome, 22

November 2011

D. Radojkovic “CFTR gene” Cystic Fibrosis Week, Novi Sad, Serbia, 23 November 2011 D. Radojkovic “CFTR gene” Cystic Fibrosis Week, Belgrade, Serbia, 24 November 2011

M. Stuhrmann-Spangenberg "The Cystic Fibrosis Example, Networking for the improvement of molecular genetic testing" 6

th Eastern European Conference for Rare diseases and Orphan Drugs. Istanbul, Turkey, November 25–26 2011

B. Dallapiccola “A global approach to rare diseases” Rare diseases: an opportunity for research, a challenge for clinics-Meeting, San Paolo Hospital , Milan, Italy 28 November2011

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S. Aymé Creating a patient-oriented environment through the National Rare Disease Plans. World Orphan Drug Congress, Geneva, Switzerland, 29 November 2011 S. Aymé Current situation of centres of expertise for rare diseases in Europe and recommendations of the EU committee of experts on rare diseases (EUCERD) 6

th Eastern European conference for rare diseases and orphan drugs, Istanbul, Turkey, 25 November 2011

S. Aymé Production of best practice guidelines for the diagnosis and management of rare diseases. 6

th Eastern European conference for rare diseases and orphan drugs, Istanbul, Turkey, 26 November 2011

B. Dallapiccola

“Moving from diagnosis into prediction of genetic diseases”

11th

National Meeting of Genetics, Immunology and Translational Pediatrics, University of Messina, Messina, 26

November 2011

S. Aymé Rare Diseases and orphan drugs: definitions, classifications and their impact on individuals and at public health level. 6

th Eastern European conference for rare diseases and orphan drugs, Istanbul, Turkey, 27 November 2011

S. Aymé Creating a patient-oriented environment through the national rare disease plans. World Orphan Drug Congress, Geneva, Switzerland, 29 November 2011 D. Gavhed and A. Larsson “An rare study - a questionnaire survey of the general practitioner’s perspective on the problem of rare diseases”, Annual meeting of the Swedish Society of Medicine, Stockholm, Sweden, 30 November 2011 December 2011 M.Krajewska-Walasek 1. “The child with dysmorphic featurtes: from facial gestalt to result of laboratory genetic diagnostics. The role of Orphanet in daily practice” 2. The recognition, diferrential diagnosis and molecular results of Polish patients with Noonan, CFC and Costello syndromes. Networking for the recognition of Ras-MAPK disorders in Poland. 3. Photo-essay of known and unknown dysmorphic syndromes – the role of Orphanet database Course for dysmorphologists “ Clinical genetics in paediatrics”. 30 November - 2 December 2011 K.H. Chrzanowska 1. “Genetic counseling in practice – Orphanet database as an information tool for professionals and patients”. 2. “Clinical characteristics, diagnostic flow-chart, and differential diagnostics in patients small for gestational age, including Silver-Russell syndrome. Networking for the recognition of SRS and SRS-like in Poland”. 3. Inherited syndromes with chromosomal instability – molecular base, clinical characteristics and differential diagnosis. The role of Orphanet in networking for the recognition of rare diseases in Europe.” Course for dysmorphologists “ Clinical genetics in paediatrics”. 30 November - 2 December 2011 A.Jezela-Stanek 1. “Submicroscopic rearrangements – from suspicion to diagnosis.” Course for dysmorphologists “ Clinical genetics in paediatrics”. 30 November - 2 December 2011 2. “Congenital malformation syndromes with features of chondrodysplasia punctata.” Course for dysmorphologists “ Clinical genetics in paediatrics”. 30 November - 2 December 2011

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3. “Cholesterol biosynthetic pathway and abnormal embryogenesis associated with the Sonic Hedgehog signaling. Smith-Lemli-Opitz syndrome as a prototype of congenital malformations disorder.” Course for dysmorphologists “ Clinical genetics in paediatrics”. 30 November - 2 December 2011 M. Krajewska-Walasek “Epigenetic mechanisms of aberrant 11p15 genomic imprinting in Beckwith-Wiedemann syndrome – networking for the recognition of BWS in Poland ”. Weekly meeting of paediatrician society in the Children's Memorial Health Institute, Warsaw, Poland 6 December 2011 K.H. Chrzanowska “Epigenetic dysregulation of growth mechanisms in Silver-Russell syndrome – networking for the recognition of SRS in Poland”. Weekly meeting of the Polish Pediatric Society in the Children's Memorial Health Institute, Warsaw, Poland 6 December 2011 R. Salonen “Demonstration of Orphanet with special attention to Search by clinical sign” Syndrome school for pediatricians and child neurologists, Department of Medical Genetics, Väestöliitto, Helsinki, Finland, 8 December 2011. M.Jovanovic “Data collection on genetic diseases “ Human Variome project Beijing meeting , Beijing, China 11 December 2011 L. Kovács “Orphanet – resources and challenges”. Workshop on Rare Diseases. Ministry of Health of the Slovak Republic, Bratislava, Slovakia, December 12, 2011 B. Dallapiccola "Introduction speech" AIDEL 22’s book release conference, Bambino Gesù Paediatric Hospital Rome, 14 December 2011 Orphanet Communication Booths

Orphanet UK Orphanet leaflets distribution at the Irish EUROPLAN conference at the House of Commons, Dublin, UK, 20 January 2011 Orphanet leaflets distribution at the Rare Disease Day parliamentary reception at the House of Commons, London, UK, 28 February 2011 Orphanet leaflets distribution at the European Society of Human Genetics Conference, Amsterdam, Netherlands, 28-31 May 2011 Orphanet leaflets distribution at the Bioinformatics for Clinical Geneticists” course at the Nowgen Centre, Manchester, UK, 18 October 2011 Orphanet promotional stand and leaflets distribution at the Research and Innovation Conference in Manchester, UK, 22 November, 2011 Orphanet-Italia Orphanet leaflets distribution at the Rare Disease Day, Bambino Gesù Paediatric Hospital, Rome, February 28, 2011.

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Orphanet Germany Orphanet booth and leaflet distribution at the “Jahrestagung Humangenetik 2011” of the german society of human genetics, Regensburg, Germany, 16-18 March 2011 Orphanet Spain Orphanet leaflet distribution in the Welcome folder of the national congress of human genetics, Murcia, spain, 30 March-1

April 2011

Orphanet Netherlands Orphanet leaflet distribution at the 4

th Rare Diseases Day, Amsterdam, the Netherlands, 12 May 2011

Orphanet France and Orphanet Netherlands The Orphanet team held also a booth and distributed Orphanet leaflets and Orphadata flyers at the ESHG held in Amsterdam, the Netherlands 28-31 May 2011 Orphanet Switzerland Joint Meeting of the XXXII Symposium of the International Society of Dermatopathology (ISDP) and the 93rd Annual Meeting of the Swiss Society of Dermatology and Venereology (SSDV), Geneva, 1-3 September 2011 Orphanet Germany Orphanet leaftets distribution at the“Fotoausstellung im Wissenschaftsgesundheits-forschung - Waisen der Medizin“ Germany, 22 September 2011 Orphanet France The Orphanet team held also a booth at the International Congress of Human Genetics, Montréal 10-15 October 2011 Orphanet Finland Database demonstration and leaflets distribution Third National Rare Diseases Day, Helsinki 21 October 2011 Orphanet France and Orphanet Switzerland The Orphanet team held also a booth and distributed Orphanet leaflets and Orphadata flyers at RARE 2011, Montpellier, 2-4 November 2011 Orphanet Publications

B. Dallapiccola, Mingarelli R. “Annuario Orphanet delle Malattie Rare 2011” Elsevier, 10 February 2011. B. Dallapiccola “Una rete di professionisti al servizio di malati unici” Scienza & Vita, n° 45, March 31, 2011. Mingarelli R., Festa S., Lauretti T., Cocchiara E. and Di Giacinto M. “Orphanet: schediamo malattie per dare risposte alle famiglie” Scienza & Vita, n° 45, March 31, 2011. Martin Reinecke, Kathrin Rommel, and Jörg Schmidtke. Funding of rare disease research in Germany: a pilot study. Journal of Community Genetics. April 2011 (2) 2 : 101-105

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Salonen R., Toivanen L. ”Minullako harvinainen sairaus? – tietoa internetistä” Väestöliiton Vuosikirja 2010 – Aika olla yhdessä. April 2011. JE Carlier-de Leeuw van Weenen, PGM van Overveld, MC Cornel en GJB van Ommen “Orphanet: bron van informatie over zeldzame ziekten” Praktische Pediatrie, December 2011, Number 4, page 266-267 S. Aymé, V. Hivert (eds.), "Report on rare disease research, its determinants in Europe and the way forward", May 2011. ISBN: 978-92-79-20766-2 DOI : 10.2772/67792 http://asso.orpha.net/RDPlatform/upload/file/RDPlatform_final_report.pdf Kovacs L, Hlavata A, Ilenčikova D. Ojedinelé choroby – nová priorita v zdravotníctve. Monitor Medicíny (Medical Monitor of the Slovak Medical Society) 2011, 1, 1-2, 19-21 Orphanet Media coverage

Communication on radio, television and internet Francesc Palau Interview Onda Cero Radio – "Julia en la Onda", Spain, 02 February 2011 B. Dallapiccola Interview about "Rare Diseases: in a book and on the net the most exhaustive Pan-European database", ospedalebambinogesu.it, February 9, 2011 L. D'Amato Sizonenko Interview Radio Suisse Romande - Emission "On en parle", Switzerland, 14 February 2011 L. D'Amato Sizonenko 1ère Journée Internationale des Maladies Rares en Suisse Live Interview, Téléjournal, Switzerland, 19 February 2011 J.Sequeiros Interview about “Launching Orphanet in Portuguese” on the radio station Antena1, Portugal, 23 February 2011 J.Sequeiros Interview about “Launching Orphanet in Portuguese” on the radio station RR, Portugal, 24 February 2011 J.Pinto-Basto Live interview about “Launching Orphanet in Portuguese” on the national public television channel RTP, Portugal, 27 February 2011 J.Pinto-Basto Live interview about “Launching Orphanet in Portuguese” on the television channel Porto Canal, Portugal, 28 February 2011 B. Dallapiccola Web Interview , lemalattierare.info, February 28, 2011. J.PintoBlasto Interview about “Launching Orphanet in Portuguese” on the radio station Portocanal, Portugal, 28 February 2011

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M. Stuhrmann-Spangenberg Interview “Orphanet” on a german health portal, Netdoktor.de B. Dallapiccola 1-hour chat session in occasion of the 13.30 TG1 broadcast, Italy April 20, 2011 B. Dallapiccola Interview , Fondazioneserono.org, May 2, 2011 Ségolène Aymé France Telethon, France 2, Paris, France, December 2011 Francesc Palau Valencian Telethon, Canal 9, Valencia, Spain, December 2011. Elfirede Swinnen: "Orphanet, een portaalsite voor de zeldzame ziekten"/ "Orphanet, un portail web pour les maladies rares" http://nl.medipedia.be/lysosomale-ziekten/testimonial_orphanet http://fr.medipedia.be/maladies-lysosomales/testimonial_orphanet Orphanet in newspaper and magazine «Atteints de pathologies rarissimes, ils s'unissent» Interview L. D'Amato Sizonenko Presse publique - Migros Magazine, Geneva, 31 Janvier 2011 «Die Diagnose war Schock und Erleichterung» Interview L. D'Amato Sizonenko Presse publique - Neue Zürcher Zeitung (NZZ), switzerland, 18 Febraury 2011 «Das Rare Disease Day Symposium in der MHH Hannover». Article by Kathrin Rommel on the RDD Event 2011 organized by the Orphanet Germany Team. Zeitschrift der BAG SELBSTHILFE e.V. 1/2011 "Gesammeltes Wissen zu seltenen Krankheiten Die Internet-Datenbank Orphanet bietet umfangreiches Infomaterial über 5500 seltene Krankheiten." Interview L. D'Amato Sizonenko, Presse publique - MediaPlanet: Seltene Krankheiten (numéro spécial), Switzerland, February 2011 “Tres nuevas iniciativas para luchar contra las enfermedades raras” El Periódico de Cantabria and other local newspapers, Spain, February 2011 « Baza de date gratuita pentru bolile genetice » Ziarul de iasi, Romania, 13 February 2011 “Saúde: versão portuguesa de portal sobre doenças raras disponível no quinta-feira” Jornal de Notícias, Portugal, 23 february 2011 « Doentes « raros » com página dedicada na internet » DN Portugal, Portugal, 23 february 2011 « Doentes raros estão menos sozinhos » CiênciaHoje, Portugal, 23 february 2011 “Malattie rare: Orphanet, le ottomila voce ne fanno il più importante database al mondo” Il sole 24 ore, Italy, February 11, 2011, “Un database per i farmaci e le cure” Column Salute, Le terapie La Repubblica, Italy, February 22, 2011 “Communication strategies and challenges for rare diseases: Medical research as a referent”

Spain, February 2011

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«Seltene Krankheiten: Zu wenig Einrichtungen in Österreich

Ärztekammer, Austria, February 2011

«Drehscheibe Koordinationsstelle für Seltene Erkrankungen» Der Standard, APA-OTS, PR INSIDE, Messe Österreich, and Austropharm 2008, Austria, February 2011 “Focus sulle malattie rare” AboutPharma, Italy, March 2011 «Nationale Koordinationsstelle für Seltene Erkrankungen gegründet» APA-OTS, Austria, February 2011, and Österreichische Apothekerzeitung, Austria, March 2011 «Die Waisenkinder der Medizin» News Leben, Austria, March 2011 «450.000 Österreicher haben seltene Erkrankungen» Der Standard, Austria, May 2011 “Wat doet Orphanet in het kader van zeldzame ziekten?” Orphanet in E-mail newsletter Stichting NET-groep, the Netherlands, October 2011 “El Comité Científico de Orphanet España contará con 48 profesionales expertos en enfermedades raras” VIT Salud Magazine, Spain, April 2011 “1 entre un millón” Telva Magazine, Spain, May 2011 “Convivir con una enfermedad minoritaria” Salud y Vida Magazine, Spain, May 2011 “Enfermedades raras y su tratamiento” El Farmacéutico, Spain, September 2011 “La esperanza de vida se limita a la primera adolescencia” La Opinión de Murcia, Spain, November 2011 “Eine Art “Google für seltene Erkrankungen”” MedUnique, Austria, December 2011 «Kaum Heilung für seltene Erkrankungen» Salzburger Nachrichten, Austria, December 2011 «Orphan diseases: Nur wenige behandelbar» Der Zahnarzt Online and Ärztewoche Online, Austria, December 2011 «Bewusstsein schaffen für seltene Erkrankungen» APA-OTS and Heimfest.at, Austria, December 2011 «Kongress über seltene Erkrankungen» APA Journal Gesundheit Online, Austria, December 2011 «Seltene Krankheiten: Auf diesem Gebiet kann die EU Lebenretten» Die Presse, Austria, December 2011 «Seltene Erkrankungen – Selten, aber in Summe häufig» Klinik Sonderausgabe 2011, Austria, 2011

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« Orphan Diseases – Verwaist und allein gelassen » Klinik Sonderausgabe 2011, Austria, 2011 « Europa – Zeit des Erwachens » Klinik Sonderausgabe 2011, Austria, 2011 « Seltene Erkrankungen in Österreich – ein Land im Aufbruch » Klinik Sonderausgabe 2011, Austria, 2011 « Orphan Drugs sind keine Stiefkinder mehr » Klinik Sonderausgabe 2011, Austria, 2011 „Serie: Orphan Diseases*: Fehlendes Wissen, fehlende Therapie, fehlende Vernetzung“ Klinik 05/11, Austria, 2011 Orphanet Communication Leaflets and flyers

- The portal fostering R&D on rare diseases and orphan drugs - Le portail au service de la R&D sur les maladies rares et les médicaments orphelins - Das Portal zur Förderung von Forschung & Entwicklung auf dem Gebiet der seltenen Krankheiten

und Orphanet Drugs - El portal impulsor de la I+D en enfermedades raras y medicamentos huérfanos - Il portale che promuove la ricerca e lo sviluppo sulle malattie rare e i farmaci orfani

1) - The reference portal for medical laboratories in the field of rare diseases and genetic tests

- Le portail de référence des laboratoires médicaux dans le domaine des maladies rares et des tests génétiques

- Das Referenzportal für medizinische Labors auf dem Gebiet der seltenen Krankheiten und Gentests

- El portal de referencia en enfermedades raras y pruebas genéticas para los laboratorios médicos - Il portale di riferimento per i laboratori di diagnosi che operano nel campo delle malattie rare

- The reference source for documentation on rare diseases - La source documentaire de référence sur les maladies rares - Die Referenzquelle für Informationen über seltene Krankheiten - La fuente de referencia de documentación en enfermedades raras - Il portale informativo di riferimento per le malattie rare

2) - The reference portal for information on rare diseases and orphan drugs in Europe

- Le portail de référence pour l’information sur les maladies rares et les médicaments orphelins en Europe

- Das Referenzportal für Informationen über seltene Krankheiten und Orphan Drugs in Europa - El portal de información de referencia en enfermedades raras y medicamentos huérfanos en

Europa - Il portale informativo di riferimento per le malattie rare e i farmaci orfani in Europa

3) - Looking for information on a rare disease? : Orphanet

- Vous cherchez une information sur une maladie rare? : Orphanet - Letar du information om en ovanlig diagnos eller särläkemedel ? : Orphanet

4) - El portal de información de referencia en enfermedades raras y medicamentos huérfanos : Orphanet

5) - Orphadata flyer

1

COMMENTS OF THE INTERNATIONAL

ADVISORY BOARD MEMBERS TO THE

ORPHANET 2011 ACTIVITY REPORT

ADDENDUM

Orphanet Europe joint Action Contract 20102206

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Table of content

TABLE OF CONTENT ...................................................................................................................... 2

1. PLANS FOR 2012 ............................................................................................................... 3 1.1. Evolution of the Orphanet consortium ........................................................................ 3 1.2. Evolution of products and services .............................................................................. 4 1.3. Orphanet’s national international collaborations ....................................................... 4 1.4. Funding forecast /Governance ..................................................................................... 5 1.5. Communication strategy .............................................................................................. 6

2. SWOT ANALYSIS ............................................................................................................... 7

3. EXHAUSTIVE COMMUNICATION LIST (2011) ...................................................................... 7

4. OTHER SUGGESTIONS ....................................................................................................... 7

5. CONSULTATION METHODOLOGY ...................................................................................... 7

6. INTERNATIONAL ADVISORY BOARD MEMBERS LIST ........................................................... 8

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1. Plans for 2012

1.1. Evolution of the Orphanet consortium

Question to the IAB: Do you foresee this expansion as necessary? Which kind of financial support would be appropriate?

Kerstin Westermark: the expansion is very important, in particular in those countries lacking regulations and incentives in the rare diseases/orphan drugs area. However, when it comes to financing, I cannot understand why countries like Australia, Japan – the first two with a much longer history in orphan drugs than the EU and the countries where the Orphanet would be hosted by their respective National Health organisations should not contribute to the financing. Further, Orphanet will save a lot of money for all those countries having developed/developing national plans/strategies for rare diseases, relieving them from establishing at a national level what is already done by Orphanet. I don’t know how to address this issue but a letter/request could be sent to the respective Health Authorities addressing this issues. To be brought up in the EUCERD? Maybe such initiatives have already been taken. Role for WHO?

Pascal Garel: Apart from the risk of not being able to cope with the consequence in terms of daily activities, I see another risk of such expansion outside the EU in losing the perspective. My advice would be first to help the sustainability of the existing members, and then work on the other European ones that not members. The relation with non EU members should be dealt separately: building a sort of confederation with one core leader in each continent for example. The issue of the financial support should be handled in each continent separately and not only focused on the European one. In Europe, the EU funds are the only realistic funds available at the moment, so working on the next step after the joint action should be driving the action.

Katia Finck: Orphanet is the reference point for Industry. We recognize Orphanet has use beyond the European Union. If the present source of funding from the European Commission is maintained, then we would propose that Orphanet focuses on the EU countries in order to maintain the high quality of the database.

However if there are alternative sources of funding available, eg a subscription model with fees according of the type of institutions ( association, academic, pharma company), we see no reasons for why the database should not be expanded to beyond the European Union. There is a need for a unique database at world level.

4

Gábor Pogány: It is not a necessity, but it is really useful to improve the global cooperation which is

necessary in the field of rare diseases.

The given cooperating non-member country should cover their own implementation process. It

would be nice if the International Rare Diseases Research Consortium (IRDiRC) would contribute

somehow to the support of international cooperation as a compensation of the workload of

Orphanet Centre.

1.2. Evolution of products and services

Question to the IAB: Is this approach the optimal one?

Herman van Oyen: Orphadata is excellent but there is a need for better explanation on how to open the files.

The OJRD is a peripheral activity which sould not take any resource to Orphanet.

Katia Finck: We believe that this process is an appropriate approach. The Java/XML platform makes a lot of sense for disease searches and data aggregation.

Gábor Pogány: Regarding Orphanet Report series: It seems flexible and user-friendly. I like the different possibilities. Barend Mons: The International trend is toward open access resources. Orphanet products should be open access. Data are the new oil of science and medicine. Orphanet data are highly curated, therefore of high importance.

1.3. Orphanet’s national international collaborations

Question to the IAB: How to protect our IP as the collaboration is a unilateral one as Orphanet does not gain any advantage from this collaboration?

Katia Finck: To protect any IP, we need to determine (a) what is the IP at stake (copyrights, know-how including data, patents), (b) who is/are the owner(s) of this IP (the authors, Orphanet, other institutions)? It is to be noted that the main purpose of protecting IP is to be able to obtain fees from third parties (licensees) in order to access or use this IP for their own needs. Such purpose cannot be achieved until and unless the two above questions are answered as well as the question of limiting access to this IP to licensees only. The fact that Orphanet consortium is not a legal entity but a network of academic institutions may raise difficulties if the IP is considered to be Orphanet’s.

5

Gábor Pogány: We should find a way of some kind of offset, eg. some contribution to the software development, etc.

Question to the IAB: Do you suggest other collaborations?

Gábor Pogány: : Perhaps a closer collaboration with IRDiRC would be useful to help the financial support of broader international collaborations.

1.4. Funding forecast /Governance

Question to the IAB: What are your recommendations in terms of sources of funding that we should consider, or can you suggest alternative funding strategy?

Katia Finck: Perhaps the financial support could move to a subscription database format.

Pascal Garel:: Beside the present funding structure of Orphanet I could imagine a more explicit industrial contribution. As the national funding for national activities have too many obstacles in several Member States, therefore a definitive central support would make them easier. Perhaps the formation of a project specific PPP funding structure, similar to the EUPATI consortium, would facilitate both core and national activities. Herman van Oyen: Orphanet should be supported by governmental institutions. Barend Mons: The business model of Orphanet is not easy to define. The problem is similar to what happens to OpenPhacts; we could work togehter on this issue. It is wise to have several sources of funding,and to discuss with Industry as the data are “business critical” for them. Establish an ERIC could be a good option. All:Explore the possibility to become a WHO collaborating centre. The Orphanet consortium is not a legal entity but a network of academic institutions accepting to host this international project.

Question to the IAB: Do you see that as a weakness? If yes, what type of status would you suggest?

Pascal Garel: This might be a weakness in looking for funds and in creating more coherence in the activities. Having compared the Belgian and the French association, I would recommend the French for the simplicity. Gábor Pogány: I think, it depends on the given situation of the partner country. The network of academic institutions accepting to host this international project could operate efficiently utilizing

6

the present infrastructure, so it is great at the beginning. However, the fundraising could be more difficult, when the governmental support is not enough. So working as a legal entity could unburden the growth henceforth in some countries. Perhaps the greater involvement of industry in funding could be also easier as a legal entity to facilitate the work and the long-term sustainability of core and national teams. The structure of governance could be also more clarified.

1.5. Communication strategy

Question to the IAB: Any other suggestions?

Pascal Garel: I guess you have explored also the idea of a video?

Katia Finck: - To include a QR code in the leaflets to link Orphanet website

- To advertise at the Independent newspaper supplement in the UK for example

- To be part of the conference brochure like ISPOR, ECRD, HTAi, …

Gábor Pogány: Perhaps a little bit more emphasis on Member State level could be useful. The national teams have much more difficulties to popularize Orphanet and its activities in some countries. The awareness could be far better in the general society and even among the expert groups as well. Therefore, the stimulation and help of local teams could be beneficial, that could help to decrease the shortage of financial and human resources at national level.

7

2. SWOT ANALYSIS

Katia Finck: There is currently no business plan & model. Maybe Orphanet should work with a French business school to create a structured business plan.

3. Exhaustive communication list (2011) No comments

4. Other suggestions KW: ‘Lists of orphan drugs in Europe’: The document is excellent and up to date! I would like to inform you that Orphanet is increasingly used for prevalence calculations by applicants for orphan designation and has proven very useful even if applicants cannot refer to Orphanet as their only source of information. I have but some minor comments to the Methodology section – for your consideration: 1st par. 3rd sentence:

‘In reality, the availability’ - should be replaced by accessibility - since orphan drugs are by definition ‘available’ once a marketing authorisation has been granted by the EU Commission.

2nd par. Last line:’ …granted a European market authorisation and – if applicable – a positive evaluation of significant benefit’ (since not all new orphan drugs are authorised on the criterium of ‘significant benefit’). Since currently more and more orphan designated products are completing their 10 years of ‘market exclusivity’ – would it be possible to add this in the table? This applies to Fabrazyme, Replagal and Glivec (only for chronic myleoid leukaemia, CML). This might be useful information for any company wanting to go into generics for these products. A question: What about the ‘risks’ of mixing up ‘Orphan drugs With European orphan designation and European market authorisation’ with ‘Orphan drugs With European market authorisation without prior orphan designation in Europe’? Has it been contemplated to chose a different term for the latter group or would it just complicate things, i.e. is the risk for misunderstanding exaggerated from my side?

5. Consultation Methodology

Board members have been invited to provide comments on the 2011 Orphanet Activity Report and to answer specific questions included in the “Addendum to the 2011 Orphanet Activity Report”. A conference call was organized between all the Board members and the coordinating team to allow discussion and clarifications if needed. This document results from the compilation of comments sent in writing by some of the board members and from the minutes of the conference call.

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6. International Advisory Board Members List

AMOS BAIROCH – UniProt and HON

HELMUT HINTNER – Clinical expert, rare genetic skin diseases, Salzburg University

KATIA FINCK – SHIRE PASCAL GAREL – HOPE

BAREND MONS - Department of Medical Informatics, Erasmus Medical Centre, University of Rotterdam

GABOR POGANY – HUFERDIS Hungarian Rare Diseases Patient Alliance and EURORDIS

KERSTIN WESTERMARK – Committee on Orphan Medicinal Products, European Medicines Agency

HERMAN VAN OYEN - Head of the Unit of Epidemiology of the Scientific Institute of Public Health, Brussels

Contact : Marc Hanauer

Coordonnées : Orphanet 102 rue Didot 75014 Paris Tél : 01 56 53 81 49 Email : marc.hanauer@inserm.fr

2011 Orphanet English users satisfaction survey

Reports collection

Orphanet Report Series

20102206

www.orpha.net

2011

2http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2011.pdfOrphanet users 2011 Satisfaction Survey

Methodology

Table of contents

Methodology 2

Results 3Question 1. Please select the category/sub-category which best describes you. 3Question 2. How did you discover Orphanet? 5Question 3. What sort of information are you looking for during THIS CONNECTION to Orphanet? 5Question 4. How often do you visit Orphanet? 6Question 5. How useful would you rank the following Orphanet services for YOUR OWN use? 7Question 6. What should Orphanet do to better serve your needs? 8Question 7. Have you experienced any bugs when using Orphanet? 9Question 8. Have you ever experienced unusual slowness when using Orphanet? 9Question 9. Do you regularly use the following sites when dealing with rare diseases? 9Question 10. How are you accessing Orphanet TODAY? 10

Conclusion 10

For any questions or comments, please contact us: contact.orphanet@inserm.fr

An on-line survey was designed in November 2011, using the online survey tool Survey Monkey (www.surveymonkey.com). Questions were based on previous Orphanet surveys carried out in 2010 and before. This survey was designed to be brief in order to encourage users to respond. Questions focused on the professional activity of the users, their habits when they visit the Orphanet website, their opinion of the content as well as their overall satisfaction and their suggestions for improvement.The survey was launched in December 2011: a pop-up window was added to the first page users landed on. The survey was translated in the 6 languages of the website available at the moment (i.e. English, French,

Spanish, Italian, Portuguese or German) and was displayed in respect of the consultation language. The survey was closed when 700 answers were collected for each language.

The answers were consistant from a language to another. The English results are presented in this document.

3Orphanet users 2011 Satisfaction Surveyhttp://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2011.pdf

Question 1

Please select the category/sub-category which best describes you.

This question aimed to determine the profile od Orphanet’s users. Six categories were proposed (i.e. health professional, patients/entourage, researcher, industrial, and health care manager/policy maker), gathering forty five sub-categories, and an freetext field was included for other types of users to enter their profession. Only one response was possible.

The table below shows the distribution of respondents amongst these categories proposed to respondants:

ANSWER OPTIONS RESPONSE PERCENT RESPONSE COUNTHealth professional: Hospital specialist 23,6% 165

Health professional: General practitioner 2,4% 17

Health professional: Independent specialist 2,7% 19

Health professional: Expert in rare diseases 5,7% 40

Health professional: Public health services 1,9% 13

Health professional: Health service / health insurance 0,7% 5

Health professional: Hospital pharmacist 0,6% 4

Health professional: Independent pharmacist 0,9% 6

Health professional: Biologist with expertise in rare diseases 2,7% 19

Health professional: Biologist with no expertise in rare diseases 0,1% 1

Health professional: Nurse 2,4% 17

Health professional: Other healthcare professional(other than nurse)

1,7% 12

Health professional: Genetic counsellor 3,7% 26

Health professional: Other 1,6% 11

Patient/entourage: Patient 10,9% 76

Patient/entourage: Mother/father/child of a patient 6,7% 47

Patient/entourage: Other family member 1,1% 8

Patient/entourage: Friend of a patient 1,0% 7

Patient/entourage: Member of a patient organisation 0,9% 6

Patient/entourage: Patient organisation administration 2,0% 14

Patient/entourage: Other 0,9% 6

Research: Academic/clinical researcher 3,7% 26

Research: Academic/basic researcher 2,6% 18

Research: Industry researcher 1,3% 9

Research: Bioinformatician 0,4% 3

Research: Health economist 0,3% 2

Research: Other 1,1% 8

Results

4http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2011.pdfOrphanet users 2011 Satisfaction Survey

ANSWER OPTIONS RESPONSE PERCENT RESPONSE COUNTIndustry: Biotechnology and pharmaceutical 2,0% 14

Industry: Private health insurance 0,0% 0

Industry: Consultant for Industry 1,3% 9

Industry: Investor / business developer 0,3% 2

Industry: Other 0,7% 5

Health care manager/policy maker: Governmental administration 0,4% 3

Health care manager/policy maker: Hospital administration 0,4% 3

Health care manager/policy maker: European administration 0,0% 0

Health care manager/policy maker: Other 0,4% 3

Education/communication: Journalist 0,3% 2

Education/communication: Librarian 0,3% 2

Education/communication: Webmaster 0,1% 1

Education/communication: Teacher (primary/secondary education) 0,6% 4

Education/communication: Teacher (higher education) 0,7% 5

Education/communication: Medical student 2,9% 20

Education/communication: Student (other than medical) 1,3% 9

Education/communication: Other 1,3% 9

If you don't belong to one of the categories above, who are you? 3,4% 24

Total 100% 700

Amongst the other types of users in the table above, were several health professionals, paramedics (midwife, psychologist) medical students, patients and members of their family or friends.

Having regrouped the replies by categories, we can see that the largest category of respondents is the health professionals category (51%), and especially hospital specialists who represent around 24% of all responses. The second largest category of respondents is patients and their entourage (including patient organisations, alliances and support groups) with 24% of responses. These results are consistent with 2010 figures.

5Orphanet users 2011 Satisfaction Surveyhttp://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2011.pdf

Question 2

How did you discover Orphanet?

This question aimed to determine how respondents first learnt of Orphanet. Only one choice was possible.

We can see that the major part of our users discovered Orphanet via internet, either by a query via a search engine (around 42%) or through a patient organisation website (4%) or a hospital website (1.6%). In addition, through the “Other” category, 15 persons declared that they first discovered Orphanet through institutions websites like the NIH (National Institutes of Health: Pubmed, Genetics Home Reference,...), the EMA (European Medicines Agency ) or OMIM (Online Mendelian Inheritance in Man).

Word of mouth works well too (about 23%): many of our users first learn about Orphanet thanks to a colleague, a doctor, a friend or a patient recommendation. Those results are very similary to the 2010 ones.

Question 3

What sort of information are you looking for during THIS CONNECTION to Orphanet?

This question aims to determine witch kind of information visitors look for on Orphanet. More than one choice was possible.

The results show a clear trend: most of the respondants were looking for information for a specific disease (74%). Our visitors also look for information on laboratory tests (23%), on rare diseases in general (20%), on research projects (17%) or on clinical trials (16%).

Compared to 2010, our respondents seem to be looking more frequently for information on research projects and clinical trials.

6http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2011.pdfOrphanet users 2011 Satisfaction Survey

Question 4

How often do you visit Orphanet?

Around 42% of the persons who answered this survey are regular users whereas 39% were visiting Orphanet for the first time.

Our visitors seem to be more regular. Among the respondents, less than 40% were visiting the Orphanet website for the first time, which represents a 7% decrease compared to 2010. Those 7% were equally split between the ‘Over twice a year’ and ‘Over twice a month’ categories, that thus increased in 2011, while the number of our very frequent users remained the same (around 14%).

7Orphanet users 2011 Satisfaction Surveyhttp://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2011.pdf

Question 5

How useful would you rank the following Orphanet services for YOUR OWN use?

The usefulness of Orphanet products was evaluated through this question. Only one response was possible. 363 persons answered this questions, representing half of the total participants. The results show that Orphanet products are highly appreciated:

Orphanet product Very useful

Useful Fairly useful

Not useful No opinion

List of diseases and classifications 184 137 24 4 14

Texts on diseases 161 143 39 3 17

Orphanet Report Series on epidemiology of Rare Diseases

100 140 41 8 74

Directory of medical laboratories 85 111 49 28 90

OrphaNews newsletter 73 92 55 20 123

Directory of patient organisations 70 121 63 18 91

Directory of research projects 68 129 68 14 84

Directory of clinical trials 64 116 59 15 109

Directory of orphan drugs 62 115 58 21 107

Search by sign facility 61 98 60 24 120

Directory of clinics 58 110 61 28 106

Directory of registries 56 104 71 15 117

Orphanet Report Series on Orphan Drugs 56 107 55 22 123

Emergency guidelines 55 92 65 27 124

The following graph presents the usefulness of Orphanet products (‘very useful’ and ‘useful’ answers). The ‘no opinion’ answers were subtracted from the results to show more faithfully the usefulness of the products according to people who know about of the Orphanet website.

8http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2011.pdfOrphanet users 2011 Satisfaction Survey

The key Orphanet service remains the encyclopaedia: the texts on diseases (88%) and the list of diseases and the classifications (92%). The Orphanet Report Series collection is also highly appreciated.

Those answers show that our users insufficiently know about some of our products. A third of them did not have an opinion about the OrphaNews newsletter, but researchers seem to be more often aware of the existence of this product compared to industrials, healthcare managers or education/communication professionals, while patients and health professionals knowledge about the newsletter is in the average.A majority of the persons who answered this question also had no opinion about the search by sign facility. This product is mainly dedicated to clinicians, who are more aware than the average of this product, but patient fairly know about it too. The directory of registries, the information on Orphan Drugs (Orphanet Report Series and inventory), or the emergency guidelines suffer a lack of knowledge in our users community.

Question 6

What should Orphanet do to better serve your needs?

363 persons left a comment in response to this question. About a quarter of them are satisfied by the Orphanet website as of December 2011, or left messages of encouragement and support to the Orphanet action.

Orphanet users mainly request that the diseases summaries be completed when they are not yet available, and that the update of diseases summaries be more regular. A frequent update of the services database is also necessary, especially for the laboratories.

A special effort has to be accorded to the website presentation to make it more user-friendly. A clearer design would help to improve the access to information, especially on the homepage.

Several persons ask to receive an email when the information on a disease or a drug is updated.

A mobile application has also been requested.

Our users would like Orphanet to be present in more countries and become completely international.

For health professionals, the main improvement to be brought to the Orphanet website would be to make smoother the Search by sign tool, which is quite complex at the moment.

In addition, they would like to have access to more clinical guidelines and review articles. Epidemiological data are asked to be country specific.

Health professionnals would also like to have photos or medical imagery to illustrate dysmorphologic diseases as it would help them in their diagnostic.

Finally, health professionals call for more details about the precise nature for tests offered by the various laboratories.

9Orphanet users 2011 Satisfaction Surveyhttp://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2011.pdf

Question 7

Have you experienced any bugs when using Orphanet?

Only 15 persons declared they already experienced a bug amongst the 361 who answered this question.

Question 8

Have you ever experienced unusual slowness when using Orphanet?

36 persons declared they already experienced slowness when using the Orphanet website.

Question 9

Do you regularly use the following sites when dealing with rare diseases?

This question aimed to determine which other websites are visited by people looking for an information on rare diseases. More than one choice was possible.

71% of those who answered the satisfaction survey also use Pubmed to obtain information on a rare disease; 42% find information on Wikipedia; the OMIM website reaches the third position with 41%. Social networks represent less than 17% of the total.Compared to 2010, the use of professional source of information like Pubmed or OMIM has increased by 7.5% and 6.5% respectively. Pubmed is massively consulted by healthcare professionnals (90%), but patients also use this website as a source of information about rare diseases (35%).This analyse also underline that Wikipedia remains an main source of information both for patients (44%) and health professionals (40%).

10http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2011.pdfOrphanet users 2011 Satisfaction Survey

Question 10

How are you accessing Orphanet TODAY?

Only one response was possible for this question.

About 47% of the persons who participated to this survey did so from home, whilst 47% did it from their workplace. The use of a mobile phone with an Internet connection is in progress but not yet significant with less than three percent of the respondants answering via a mobile device.

Conclusion

The results of the survey have helped the Orphanet team evaluate the expectations and needs of our users. Several improvements were planned in 2011 and 2012 that will fulfill some of the requests made by respondents: the first is to complete more disease summaries, and to at least give access to a definition for every condition; the next is to create a clearer and more user-friendly new homepage that should be on-line this summer; third is to identify more clinical guidelines.These developments aim to enable Orphanet to best fulfill its mission of providing quality information to the rare disease community.

For any questions or comments, please contact us: contact.orphanet@inserm.fr

Editor-in-chief: Ségolène Aymé Editor: Céline Angin Visual design: Céline Angin

The correct form when quoting this document is:

« Orphanet users 2011 Satisfaction Survey », Orphanet Report Series, Reports collection, 2011,

http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2011.pdf

2012 Orphanet Partners survey

Joint action 20102206

• Only negative comments are shown to feed the discussion, but we thank you for all the positive and nice messages! • Responses were analysed for countries coordinators (light orange title) and Informations scientists plus project managers (light blue title)

21 out of 35 Country Coordinators answered the online partner survey

20 95%

1 5%

Have you been in contact with the Coordinating team of the Orphanet Europe Joint Action

Yes

No

28/43 Information scientists (IS) and 8/16 project managers (PM) answered the online survey

24 86%

4 14%

Have you been in contact with the Coordinating team of the Orphanet Europe Joint Action

Yes

No

7 87%

1 13%

IS PM

Country Coordinators’ satisfaction

Information scientists satisfaction

Are you overall satisfied with the coordinating team

reaction and support?

Verbatim

• The reaction depends on the person. Some respond quickly, others take much time or react to a reminder (X3)

• although sometimes too controlled, a good coordinated project

• In overall terms I am very satisfied, however I think that Orphanet partners should have more involment in developments (processes, procedures and tools). This could be done using regular consultations or satisfaction surveys. It is also necessary to provide more transparency regarding how collaborations work between Orphanet central and organisations (public or private) from our country.

• Involvement of the orphanet partners could be improved. This concerns mainly requests of new disease entries and corrections (SOP should be developed) and the involvement of country team suggestions in the developing of new internal tools for database handling (update process etc). I also miss clear SOP's for the "Other website" link category.

• The change to Latin 2 diacritical signs is taking too long

• With more satisfaction surveys or consultations regarding new procedures or tools, so that suggestions regarding these topics can be provided on time, more regularly, more effectively and by all partners. To date, these suggestions are provided via email or during training sessions; either way it is not very clear if they are going to be considered and when.

Are you overall satisfied with the coordinating team reaction and support?

• The reactivity of answers depends on the person adressed, this is because the coordinating team is also understaffed, remember to put sylvie.maiella@inserm.fr in copy. For urgent matters do not hesitate to call, these questions will be treated in priority.

• More involvement in developments (processes, procedures and tools) by using regular consultations or satisfaction surveys, can be implemented. However more involvement in the tools, is very time consuming and not feasible with current staffing. A step in this direction has been taken by putting a “IT projects section” in the internal newsletter to made partners informed on what is going on. With COLLECTOR direct involvement of the teams is foreseen.

• Regarding new disease entries and corrections: the national team currently submit their suggestions to the coordinating team these suggestions are adressed during the monthly disease meeting and a feedback on the question is addressed to the teams through the disease meeting report in the QA review

• Other website and external editorial material quality criteria will be implemented in the SOPS

• From now on, to provide more transparency regarding how collaborations work between Orphanet central and organisations (public or private) in the countries, the national coordinator will always be in copy of the exchanges with the coordinating team.

• The change to UTF8 is foreseen in Spring-Summer 2012.

OrphaNetWork website country coordinators

0 0%

8 42%

6 32%

5 26%

How often do you make use of the OrphaNetWork website?

once a day

once a week

once a month

less than once a month

10

5

9

7

13

5

0 2 4 6 8 10 12 14

to access reports

to access links to Orphanet SOPs

to keep up to date with Orphanet events

to access other documents

to access the OrphaNetWork newsletter

to access the QA review

What do you use the website for most often? (multiple choices possible)

Country Coordinators’ satisfaction

OrphaNetWork website information scientists

8 34%

7 29%

7 29%

2 8%

How often do you make use of the OrphaNetWork website?

once a day

once a week

once a month

less than once a month

14

14

7

19

10

8

0 5 10 15 20

to access reports

to access links to Orphanet SOPs

to keep up to date with Orphanet events

to access other documents

to access the OrphaNetWork newsletter

to access the QA review

What do you use the website for most often? (multiple choices possible)

Information scientists satisfaction

Verbatim

•Maybe an update of the website for partners?

• Through updated short reviews about the current activities of other single countries. • more communication • maybe more trainings or more communication between the teams about the problems they have with collecting the informations of the national teams' work • Crossferencing of newsletters with Eurordis, national rare diseases associations, Eurogentest, ESHG.org etc. - simply using more channels To prove more funding for countries • The reports are not always detailed enough to present the situation in individual member states

• Sometimes there are too much documents which must be checked • No more channels please: information overflow!

•I understand the idea behind separating these different channels, but sometimes it is a lot to read. Maybe a summary 1-2 pagers would help? Although that would be yet another document...

Improvement of the dissemination/newsletter

• National communication on activities can be carried out by submitting information to the internal

and the external newsletters

• The OrphaNetWork website is very old fashioned, new version will be implemented within a year

• Adaption of the activity report in national language to present national situation is strongly

encouraged and can be published as a Orphanet Report Series (respect of the format template)

How could the ONW website be more useful to you?

Verbatim

• more interactive, forum or something like this

• Maybe a make-over to update the site to 2012?

• I would appreciate to highlight the news for easier orientation

• Make it more friendly

• Making OrphaNetwork compatible with IE

• Sometimes it is a little bit outdated or unclear

• if sthg new uploaded, just make it more visible and mark it

• The database content statisticts could be updated monthly.

• A board for internal messages would be nice.

• The OrphaNetWork website is very old fashioned, new version will be implemented within a year

ANY SUGGESTIONS WELCOME! (flux RSS of news?)

• To ease the navigation the site has been re-organised in the summer of 2011, news on publication

of documents are highlighted on the homepage.Still, clearly the site needs to be improved to allow

faster identification of the documents available, a new organisation of the documents can be

discussed

•Almost all the documents have been updated in the summer of 2011 and they are checked every six

months for validity.

•The database content statistics will be updated monthly starting September 2012 (tool in

development)

ONW newsletter country coordinators

11 58%

8 42%

0 0% 0

0%

How much of OrphaNetWork newsletter do you usually read?

In its entirety only the sections that interest you rarely read it – not enough time not interested

10 43%

13 57%

0 0%

0 0%

How much of OrphaNetWork newsletter do you usually read?

In its entirety only the sections that interest you rarely read it – not enough time not interested

ONW newsletter information scientists

What could be done to improve OrphaNetWork newsletter?

Verbatim •I would appreciate it if the coordinating team would keep us better updated on ongoing projects/plans/problems. make it shorter and more centrate • Shorter articles. The contents of the newsletter are important and interesting to read, although at times can be quite long. • Dissemination and promotion of the project is really very good, I would however team up with Eurordis newsletter and cross referent better and utilise thus both mailing channels

• Every two months partners are invited to submit information for publication in the newsletter • lack of feedback from most countries • Shorter articles can be an option, maybe monthly newsletter?

QA review country coordinators

16 84%

3 16%

Do you read the Quality Assurance review?

Yes

No

7 44%

9 56%

0 0%

0 0%

How much of the Quality Assurance review do you usually read?

In its entirety

only the sections that interest you

rarely read it – not enough time

not interested

Country Coordinators’ satisfaction

QA review information scientists

23 100%

Do you read the Quality Assurance review?

Yes No

9 39%

13 57%

1 4%

0 0%

How much of the Quality Assurance review do you usually read?

In its entirety

only the sections that interest you

rarely read it – not enough time

not interested

Information scientists satisfaction

Verbatim • the disease linking is more important than typing errors check • I think this document in excel, and as long as it allows filtering/sorting of information, would

be more user friendly. It needs to be sent more regularly covering shorter periods of time. • Maybe number the to-do's, a short list • Too complex for the amount of money we get from the EC, which is also associated with the

national unwillingness to cofinance Joint Actions in general • It is very tedious to read/work with the QAR in its current format. It is too long and it contains

too many requests to be carried out within the tight deadline. It also arrives too late: many requests to update information are N/A, since this information has already been changed. Moreover, by the time the report arrives many new activities have been added in a not "optimal" way, because suggestions included in the report to improve their addition were not known at the time of their addition.

• The Quality Assurance Review needs to be improved. • The word format of the Quality Assurance Review is not satisfying. I could imaging an internet

soution, where the informations are uploaded and teams could work and save their comments online. The exchange of informations would be easier, one could create an archieve, where entries that are "closed" would still be accessible etc.

• sometimes is easier to ask personally the problems before receiving the newsletter with lots of errors

What could be done to improve the Quality Assurance review?

What could be done to improve the Quality Assurance review?

• Clearly, the disease linking is more important than typing errors check,

in fact this errors are not listed anymore in the QA review but sent independently by mail to the concerned team as a suggestion.

• To reduce the number of tasks to be carried out : a translation report, is separately sent (since January) with all the translations tasks and more regular monthly QA were discussed and agreed during the 2012 training

• We are aware of the complexity of the task compared to the financial support from the EC, national funding identification is strongly encouraged

• Changing of the format: any suggestion is more than welcome, word format better for tracking rather than excel! However the future tool COLLECTOR will allow an easier task managing for Quality assurance through an online access to the data so that teams could work and insert their comments adressed to the coordinating team.

SOPs country coordinators

2 12%

14 88%

Were you involved in the elaboration of the Standard Operating Procedures?

Yes

No

SOPs information scientists

4 18%

18 82%

Were you involved in the elaboration of the Standard Operating

Procedures?

Yes

No

Comments to the V1 SOPs

Verbatim

• We did invest a lot of time to prepare the SOP for the control of quality of information before

and after release for our country, following the guidelines provided by the central team at the time.

Eventually, it was not worth this effort, since the SOP for these processes were established without

taking into consideration the SOP we had already provided and we did not have any other option

than to accept them, independently of their viability in our country.

• Documents were very nicely made. However I have doubts with regard to the feasibility of

implementing the procedures at this moment.

• The draft version of the SOPs is sent to the country coordinators for validation and then each suggestion is considered and accepted or not during the management board • Validation procedures information in each country are being collected

Activity Report 2011 country coordinators

11 69%

5 31%

Were you involved in the elaboration of the Activity Report 2011?

Yes

No

Activity Report 2011 information scientists

12 55%

10 45%

Were you involved in the elaboration of the Activity Report 2011?

Yes

No

Verbatim •more frequent meetings in which to participate more involved persons from the same

team to discuss particular problems of each country

• short communications during the scientific meetings

• better connections between partners and associated partners

•following the annual meeting as observer is very useful for "information scientists" and

"project managers" to understand the issues that are discussed at this level and how

coordinators and health authorities think of the database.

•To allow 2 days

What could be done to improve the Annual meeting of the Orphanet Europe Joint Action?

• The budget allows only one meeting and one training per year, concurrent

meeting and training to allow plenary sessions with coordinators and

information scientist can be organised for next year over two days.

2011 Kick off meeting country coordinators

12 75%

4 25%

Did you participate in the Orphanet Europe Joint Action kick

off meeting?

Yes

No

2012 Annual training country coordinators

1 6%

15 94%

Did you participate in the 2012 Orphanet Annual training?

Yes

No

2012 Annual training information scientists

14 64%

8 36%

Did you participate in the 2012 Orphanet Annual training?

Yes

No

What could be done to improve the Annual Orphanet training?

Verbatim

• In general the training was very good, although it was very compact. Some topics were missing (Orphadata, how collaborations work, etc) and it would have been worth to hear about them.

• the teams problems are not the same, varies from country to country. Finding general and particular solutions for teams problems

• Minutes have been made during the training, but these were never sent to the participants, that is a pity.

• 2 times per year

• Agenda sent out earlier

• All proposals must be considered

• The agenda was too compact, there were many important things that were explained in too short time

• A previous consultation to the partners about their needs and questions could have provided a more tailored and comprenhensive training.

• Some rooms were too small for the quantity of attendees and therefore very uncomfortable

• Separate trainings for newcomers and other (seniors)

• Discuss on country specific problems with each other (seniors)

• Make trainings more concrete; for example: show the whole process from getting and injecting data. "Here's laboratory ABC and now we put these tests online" and so on.

• maybe to divide the representatives of the teams into groups - adavanced and basic, because some informations were for the advanced users maybe not so useful (they already know them), but for the basic users it was really important

• Perform them on a annual basis

What could be done to improve the Annual Orphanet training?

• The budget allows only one 2 days training per year in Paris, however conference call training have been organised to improve the exchange between the teams and the coordinating teams.

• The minutes of the training were sent mid-april 2012, 2 months and a half after the training, shorter delay is possible

• This year training agenda was sent to all participants almost two months (on the 8/12) prior to the training occurring on the 30/31 January, earlier it is not possible.

• Partners were consulted for the conference call training agenda and will be consulted for the next trainings .

• Statistics on modifications/errors listed in the report to orientate the agenda of the training

• Lack of time during the Paris training to allow long discussion between senior IS, this difficulty has been overcome organising a conference call training with all the seniors information scientists in April 2012 to also allow all the IS that were not able to attend the training due to budget issues.

• Next year training if budget allows it will be with computers and concrete workshops

User survey- country coordinators satisfaction

User survey-Information scientists’ satisfaction

How could the Orphanet Annual user survey be improved?

Verbatim

•The comment section of the users is not considered.

• It is available on the ONW website for national teams consideration

Do you have any final comments about the performance and impact of the work of the coordinating team?

• Promised features are always delayed. It is essential within a Joint Action to concentrate the ressources on the MS. • Overall, the coordinating team is quite available, friendly and ready to help but sometimes the feedbacks are lacking or take time. • The workload to meet expectations and requirements of data quality is steadily increasing despite the resources available. • I am very happy with its performance. I would just improve: - To get more feedback from partners via consultations/surveys • More transparency regarding some topics, such as collaborations • Funding needed

•Delay in the tools delivery is due to understaffing and complexity of the project • feedbacks take time because of the understaff situation, do not hesitate to send reminders, to put sylvie.maiella@inserm.fr , and to call for urgent matters, they will be treated in priority • More surveys can be carried out to collect partners comments more regularly • Collaborations are detailed in the Annual activity report and announce din the collaboration section of the newsletter ONW

Contact : Marc Hanauer

Coordonnées : Orphanet 102 rue Didot 75014 Paris Tél : 01 56 53 81 49 Email : marc.hanauer@inserm.fr

2012 user satisfaction surveyof the Orphanet website in English

Reports collection

Orphanet Report Series

20102206

www.orpha.net

2012

2http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2012.pdf2012 user satisfaction survey of the Orphanet website in English

Methodology

Table of contents

Methodology 2

Results 3Question 1. By what capacity are you consulting the Orphanet website TODAY? 3Question 2. How did you discover Orphanet? 7Question 3. How often do you visit Orphanet? 7Question 4. What sort of information are you looking for during THIS CONNECTION to Orphanet? 8Question 5. How useful would you rank the following Orphanet services for YOUR OWN use? 8Question 6. Have you ever downloaded the following documents? 10Question 7. What should Orphanet do to better serve your needs? 11Question 8. What do you think of the makeover of the Orphanet homepage? 12Question 9. Since the makeover of the homepage, have you discovered services you did not know about? 12Question 10. Do you regularly use the following sites when dealing with rare diseases? 13Question 11. How are you accessing Orphanet TODAY? 14Question 12. If you are a clinician, do you visit the Orphanet website... 14Question 13. Do you possess a mobile device (Smartphone, tablet)? 15Question 14. Do you use your mobile device to look for information on Orphanet? 15Question 15. Where do you use your mobile device to look for information on Orphanet? 15Question 16. Orphanet is developing a mobile application. Would you be interested in using it? 16Question 17. Which Orphanet service would you like to access using this application? 16Question 18. How much would you accept to pay to download the Orphanet mobile application? 17

Conclusion 18

For any questions or comments, please contact us: contact.orphanet@inserm.fr

An on-line survey was designed in November 2012, using the online survey tool Survey Monkey (www.surveymonkey.com). In the first part of the survey, questions were based on previous Orphanet surveys carried out in 2011 and earlier, while the second part focused on the new design of the Orphanet homepage and the development of a mobile application. Questions focused on the professional activity of the users, their habits when they visit the Orphanet website, their opinion of the content as well as their overall satisfaction and their suggestions for improvement.

The survey was launched in December 2012: a pop-up window was added to the first page users landed on. The survey was translated into the 6 languages of the website presently available at the moment (i.e. English, French, Spanish, Italian, Portuguese or German) and was displayed respecting the language of consultation. The survey was closed when 1,000 answers were collected. The English language results are presented in this document.

32012 user satisfaction survey of the Orphanet website in Englishhttp://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2012.pdf

Question 1

By what capacity are you consulting the Orphanet website TODAY?

This question aimed to determine the profile of Orphanet’s users.Seven categories were proposed (i.e. health professional, patients/entourage, researcher, industrial, health care manager/policy maker and, for the first time, students), and a free text field was included for other types of users to enter their profession. Only one response was possible.

The table below shows the distribution of respondents amongst these categories:

ANSWER OPTIONS RESPONSE PERCENT RESPONSE COUNTHealth professional 40,7% 407

Patient/entourage 24,5% 245

Research 12,9% 129

Industry 5,7% 57

Health care manager/policy maker 1,3% 13

Education/communication 3,6% 36

Student 5,6% 56

Other 5,7% 57

Total 100% 1000

The largest category of respondents is the health professionals category (41%). The second largest category of respondents is patients and their entourage (including patient organisations, alliances and support groups) with 24% of responses. These results are consistent with 2011 figures for the Patient category, but the health professionals category has decreased by 10 points, mostlikely due to the creation of the Student category.

Amongst the “Other” types of users in the table above, were several health professionals, attorneys, medical translators and clinical coding technicians, but the large majority (28) were patients or patients’ relatives. This might be linked to a misunderstanding of the term « entourage ».

Results

Health professional41%

Patient/entourage24%

Research13%

Industry6%

Health care manager/policy

maker1%Education/

communication4%

Student5%

Other6%

4http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2012.pdf2012 user satisfaction survey of the Orphanet website in English

Then, for each category, respondents were asked to choose the sub-category that would best describe them.

Health professionals (n=399):Hospital specialists represent by far the main category of respondents (45%). All together, 57% are specialists. Healthcare professional (nurses and others) represent more than 11% of the health professionals, genetic counsellors for 7.5%, general practitioners for 6.5%.In the “Other” category, a third of the respondents are clinical or medical geneticists.

7,8%

0,5%

0,8%

0,8%

1,0%

3,0%

3,0%

4,0%

5,3%

6,5%

7,3%

7,5%

7,5%

45,1%

0,0% 10,0% 20,0% 30,0% 40,0% 50,0%

Other

Hospital pharmacist

Independent pharmacist

Biologist with no expertise in rare diseases

Health service / health insurance

Public health services

Biologist with expertise in rare diseases

Nurse

Independent specialist

General practitioner

Other healthcare professional (other than nurse)

Expert in rare diseases

Genetic counsellor

Hospital specialist

Health professional

Patient/entourage (n= 243):Most of the people who selected this category are patients (52%). More than 38% are family members of a patient with rare diseases.

2,9%

0,0%

2,9%

3,3%

9,5%

28,8%

52,7%

0,0% 20,0% 40,0% 60,0%

Other

Member of a patient organisation

Friend of a patient

Patient organisation administration

Other family member

Mother/father/child of a patient

Patient

Patient/entourage

52012 user satisfaction survey of the Orphanet website in Englishhttp://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2012.pdf

Research (n= 122):Academic researchers represent 48% of respondents of the research category, and are equally divided between basic and clinical research. The newly created ‘Social sciences’ category gathers 10% of researchers, underli-ning the emergence of this domain in the rare diseases field.

19,7%

3,3%

6,6%

9,8%

13,1%

23,8%

23,8%

0,0% 10,0% 20,0% 30,0%

Other

Health economist

Bioinformatician

Social sciences

Industry researcher

Academic/clinical researcher

Academic/basic researcher

Research

Industry (n=55):More than 70% of respondents in this category work in biotechnology or pharmaceutical industry. Others are mainly consultants for industry (25.5%).

0,0%

1,8%

1,8%

25,5%

70,9%

0,0% 20,0% 40,0% 60,0% 80,0%

Other

Private health insurance

Investor / business developer

Consultant for Industry

Biotechnology and pharmaceutical

Industry

6http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2012.pdf2012 user satisfaction survey of the Orphanet website in English

Health care manager/policy maker (n=13):In this category, 8 individuals work for governmental administration (61%) and 2 work for a hospital admi-nistration (15%).

23,1%

0,0%

15,4%

61,5%

0,0% 20,0% 40,0% 60,0% 80,0%

Other

European administration

Hospital administration

Governmental administration

Health care manager/policy maker

Education/communication (n=33):Instructors represent 27% of this category and journalists 15%. In the Other category, there were several students, teachers and medical writers.

51,5%

0,0%

6,1%

12,1%

15,2%

15,2%

0,0% 20,0% 40,0% 60,0%

Other

Webmaster

Librarian

Teacher (primary/secondary education)

Journalist

Teacher (higher education)

Education/communication

Students (n=55):Medical students represent 62%. Other students are mainly biology students, but also biotechnology, bioinfor-matics, pharmacy or nursing students.

61,8%

38%

0,0% 10,0% 20,0% 30,0% 40,0% 50,0% 60,0% 70,0%

Medical student

Other than medical student

Students

72012 user satisfaction survey of the Orphanet website in Englishhttp://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2012.pdf

Question 2

How did you discover Orphanet?

This question aimed to determine how respondents first learnt of Orphanet. Only one choice was possible.

5,0%

0,1%

0,6%

0,6%

0,8%

0,9%

1,7%

2,1%

2,2%

2,4%

2,9%

3,0%

3,1%

3,6%

4,0%

4,3%

8,6%

13,9%

40,1%

0,0% 10,0% 20,0% 30,0% 40,0% 50,0%

OtherHON

Paper version of the Orphanet databaseMember of a patient organisation

Hospital websiteOn-line directory (Yahoo directory)

Newspaper/magazine/television/radioWikipedia

Rare Disease DayFriend/associate

Patient organisation’s websitePerson affected by a rare disease

DoctorConference

Contact with OrphanetOther search engine apart from Google

I don’t rememberColleague

Google

How did you discover Orphanet?

The majority of our users discovered Orphanet via internet, either by a query via a search engine (around 45%) or through a patient organisation website (3%) or a hospital website (0.8%). In addition, through the “Other” category, 16 individuals declared that they first discovered Orphanet through institutional websites such as the NIH (National Institutes of Health: Office of Rare Diseases Research, Pubmed, Genetics Home Reference...), or OMIM (Online Mendelian Inheritance in Man).

Word of mouth has worked well too (about 26%): many of our users first learn about Orphanet thanks to a colleague, a doctor, a friend or a patient recommendation. These results are similar to those of 2011.

Question 3

How often do you visit Orphanet?

Only one response was possible.

Around 38% of those who answered this survey are regular users whereas 47% were visiting Orphanet for the first time. About half of first time visitors are patients and entourage.Health professionals are more than 58% to visit the Orphanet website more than twice a month, industrials are 49%, whereas patients are less than 11%.

First visit47%

Over twice a year15%

Over twice a month

23%

Over twice a week15%

How often do you visit Orphanet?

8http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2012.pdf2012 user satisfaction survey of the Orphanet website in English

Question 4

What sort of information are you looking for during THIS CONNECTION to Orphanet?

This question aims to determine which kind of information visitors sought on Orphanet. More than one choice was possible.

4,7%1,8%2,6%3,2%5,1%7,1%

10,8%12,1%12,5%14,6%14,8%

18,8%24,9%

78,3%

0,0% 20,0% 40,0% 60,0% 80,0% 100,0%

OtherVisit to register your activity in Orphanet

Don’t know – just curiousInformation on the newsletter

Information on the Orphanet projectInformation on registries

Information on orphan drugs in generalInformation on specialist clinics

Information on patient organisationsInformation on clinical trials

Information on research projectsInformation on laboratory tests

Information on rare diseases in generalInformation for a specific disease

What sort of information are you looking for during this connection to Orphanet?

The results show a clear trend: most of the respondents were looking for information for a specific disease (78%). Our visitors also look for information on rare diseases in general (25%), on laboratory tests (19%), on research projects (15%) or on clinical trials (15%).32% of health professionals are looking for information on a laboratory test; 40% of students are looking for information on rare diseases in general. As expected, those in industry are looking for information on orphan drugs (33%) and research data (research projects, clinical trials, registries), and also on patient organisations.Compared to 2011, our respondents seem to be looking more frequently for information on rare diseases in general.

Question 5

How useful would you rank the following Orphanet services for YOUR OWN use?

The usefulness of Orphanet products was evaluated through this question. Only one response was possible for the 810 respondents. The results show that Orphanet products are highly appreciated but not sufficiently well known:

92012 user satisfaction survey of the Orphanet website in Englishhttp://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2012.pdf

Orphanet product Very useful

Useful Fairly useful

Not useful

No opinion

I didn’t know

Orphanet offered

this serviceList of diseases and classifications 370 210 53 8 67 102

Texts on diseases 324 259 75 5 59 88

Emergency guidelines 126 169 95 33 171 216Search by sign facility 111 184 86 37 174 218Directory of clinics 116 179 105 47 178 185Directory of medical laboratories 139 175 89 44 178 185Directory of patient organisations 144 205 119 30 139 173

Directory of research projects 134 212 104 31 146 183

Directory of clinical trials 151 193 95 38 144 189

Directory of registries 114 181 106 35 177 197Directory of orphan drugs 149 182 112 30 161 176

Orphanet Report Series on epidemiology of Rare Diseases

192 191 84 17 142 184

Orphanet Report Series on Orphan Drugs 132 171 92 26 181 208OrphaNews newsletter 102 164 84 29 190 241Orphanet national websites 139 163 87 33 177 211Orphadata (downloadable Orphanet datasets)

118 138 68 25 179 282

The following graph presents the usefulness of Orphanet products (‘very useful’ and ‘useful’ answers). The ‘no opinion’ and ‘I didn’t know Orphanet offered this service’ answers were subtracted from the results to more faithfully represent the utility of the products, according those aware of these Orphanet services.

66,0%

67,7%

69,7%

70,0%

70,1%

70,2%

70,2%

70,6%

71,6%

71,9%

72,0%

72,1%

73,4%

79,1%

87,9%

90,5%

0,0% 20,0% 40,0% 60,0% 80,0% 100,0%

Directory of clinics

Directory of registries

Emergency guidelines

Directory of orphan drugs

Directory of patient organisations

OrphaNews newsletter

Directory of medical laboratories

Search by sign facility

Orphanet national websites

Directory of research projects

Orphanet Report Series on Orphan Drugs

Directory of clinical trials

Orphadata (downloadable Orphanet datasets)

Orphanet Report Series on epidemiology of Rare Diseases

Texts on diseases

List of diseases and classifications

How useful would you rank the following Orphanet services for your own use?

10http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2012.pdf2012 user satisfaction survey of the Orphanet website in English

The key Orphanet service remains the encyclopaedia: the texts on diseases (88%) and the inventory of diseases and the classifications (91%). The Orphanet Report Series collection is also highly appreciated.

An analysis of the newly introduced category ‘I didn’t know Orphanet offered this service’ is presented in the following graph, highlighting the fact that our users are not sufficiently informed about our range of products.

10,9%

12,6%

21,4%

21,7%

22,6%

22,7%

22,8%

22,8%

23,3%

24,3%

25,7%

26,0%

26,7%

26,9%

29,8%

34,8%

0,0% 10,0% 20,0% 30,0% 40,0%

Texts on diseases

List of diseases and classifications

Directory of patient organisations

Directory of orphan drugs

Directory of research projects

Orphanet Report Series on epidemiology of Rare Diseases

Directory of clinics

Directory of medical laboratories

Directory of clinical trials

Directory of registries

Orphanet Report Series on Orphan Drugs

Orphanet national websites

Emergency guidelines

Search by sign facility

OrphaNews newsletter

Orphadata (downloadable Orphanet datasets)

'I didn’t know Orphanet offered this service'

Orphadata, the website that allows researchers to download Orphanet datasets, is well appreciated but also not very well known by our respondents. This is understandable as this service is recent (2011), research oriented and therefore not useful for the vast majority of users.Patients and their entourage is the category that seems to know the least about Orphanet services: often more than 40% declare that they did not know about a service provided by Orphanet.In particular, nearly a third of the respondents did not know about the OrphaNews newsletter even though health professionals, researchers and industrials seem to be more often aware of the existence of this product compared to patients.The search by sign facility suffers from a lack of exposure in our user community, as well as our collection of emergency guidelines (which is better known in the health professionals category than in all others). These products are mainly dedicated to clinicians, who are more aware of these products than the average.

Question 6

Have you ever downloaded the following documents?

This question aims to determine whether our documents have already been downloaded by the website users. Only one response per row was possible.

Answer Options Yes No Response CountOrphanet Report Series on epidemiology of Rare Diseases 189 612 801

Orphanet Report Series on Orphan Drugs 100 701 801

Emergency guidelines 107 694 801

Data from the Orphadata website 189 612 801

112012 user satisfaction survey of the Orphanet website in Englishhttp://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2012.pdf

12,5%

13,4%

23,6%

23,6%

0,0% 5,0% 10,0% 15,0% 20,0% 25,0%

Emergency guidelines

Orphanet Report Series on epidemiology of Rare Diseases

Data from the Orphadata website

Orphanet Report Series on Orphan Drugs

Documents already downloaded

A quarter of our users have downloaded the Orphanet Report Series on orphan drugs or a table from Orphadata.

More than 39% of industrial users have already downloaded the Orphanet Report Series on epidemiology of rare diseases (vs. 31% of health professionals) and 30% have downloaded the report on orphan drugs. Patients are the group that have downloaded Orphanet products the least.

Question 7

What should Orphanet do to better serve your needs?

Comments were left by 364 individuals in response to this question. About a quarter of them are satisfied by the Orphanet website as of December 2012, or left messages of encouragement and support for the Orphanet action. Orphanet users mainly request that the diseases summaries be completed when they are not yet available, and that the update of disease summaries be more regular. A frequent update of the services database is also necessary, especially for laboratories.Despite the new homepage design, the Orphanet website still needs to be more user-friendly with pages less cluttered to ease navigation. Several people asked to receive personal notifications when the information on a disease or a drug is updated.Our users would like Orphanet to be present in more countries, especially in the USA, to become completely international. Furthermore, they would like to have all resources of the database available in all 6 languages and to have the website translated in even more languages.For health professionals, the main improvement requested is greater ease of use for the search by sign tool, which is quite complex at the moment.In addition, they would like to have access to more clinical guidelines and review articles as well as bibliographic references. Health professionals have suggested that photos or medical imagery to illustrate dysmorphological diseases would help them in their diagnoses.They also call for more details about the precise nature of tests offered by various laboratories.Our users would like us to better disseminate information regarding Orphanet and its services, many of which were unknow to them.Finally, several respondents were unsatisfied by the way the pop up of the survey appeared repeatedly on the website and failed to find the “close” button to shut it down. Next year, we will modify this pop up in order to make it more user-friendly.

12http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2012.pdf2012 user satisfaction survey of the Orphanet website in English

Question 8

What do you think of the makeover of the Orphanet homepage?

This question aims to determine how our users rate the new homepage design from 1 [Bad, it is worse than before] to 10 [Very good, significant improvement].

0,5% 1,4% 1,4% 1,5%

6,6% 7,6% 8,8%

15,2%

10,5%

5,7%

40,7%

0,0%

5,0%

10,0%

15,0%

20,0%

25,0%

30,0%

35,0%

40,0%

45,0%

1 2 3 4 5 6 7 8 9 10 No opinion

Rating of the new homepage

The average note to the new homepage is 7.21. More than 40% of the respondents have no opinion about the design, most of these respondents (65%) are first time visitors.

Question 9

Since the makeover of the homepage, have you discovered services you did not know about?

Important changes were made to the Orphanet homepage, and this question aims to determine if this had an impact on its popularity/notoriety and to determine which services were discovered.

A third of our users discovered new services thanks to the makeover of the homepage. Yet, some services, better identified on the new homepage, are still insufficiently known.

The main services that were discovered since the new design of the Orphanet homepage are: the classifications and the inventory of rare diseases.Furthermore, our regular users discovered the emergency guidelines and the Orphanet Report Series collection, which are both highlighted on the new homepage.

Yes36%

No64%

Since the makeover of the homepage, have you discovered services you did not know about?

132012 user satisfaction survey of the Orphanet website in Englishhttp://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2012.pdf

13,1%

13,1%

14,2%

14,9%

14,9%

14,9%

14,9%

15,3%

16,4%

17,5%

19,8%

20,5%

20,9%

21,3%

23,9%

24,6%

26,5%

33,6%

35,4%

0,0% 10,0% 20,0% 30,0% 40,0%

the encyclopaedia for the general public

the directory of professionals and institutions

the possibility to register your activity in the database

the inventory of orphan drugs

the directory of ongoing research projects, registries and biobanks

the newsletter Orphanews

the Orphadata website to download our dataset

the directory of medical laboratories providing diagnostic tests

the clinical guidelines of the professional encyclopaedia

the directory of patient organisations

the Orphanet national websites

the downloadable reports in PDF of the Orphan Report Series …

the directory of expert centres

the directory of clinical trials

the emergency guidelines

the assistance-to-diagnosis tool

the disease-related genes

the inventory and the encyclopaedia of rare diseases

the classifications of rare diseases

Services discovered since the makeover of the homepage

Question 10

Do you regularly use the following sites when dealing with rare diseases?

This question aimed to determine which other websites are visited by people looking for information on rare diseases. More than one choice was possible.

8,7%

10,1%

11,2%

24,0%

27,0%

41,1%

41,2%

50,3%

74,0%

0,0% 20,0% 40,0% 60,0% 80,0%

None of them

Social networking sites (professional)

Social networking sites (personal)

GeneClinics

Websites of learned societies

Websites of patient organisations or foundations

OMIM

Wikipedia

PubMed

Do you regularly use the following sites when dealing with rare diseases?

To obtain information on rare diseases, Pubmed is used by 74% of those who answered this question; 50% of them find information on Wikipedia; the OMIM website reaches the third position with 41%, as well as websites of patient organisations or foundations. Social networks represent less than 21% of the total.

14http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2012.pdf2012 user satisfaction survey of the Orphanet website in English

Pubmed is massively consulted by healthcare professionals (88%), researchers (73%) and industry (85%) but patients also use this website as a source of information on rare diseases (46%). OMIM is mainly used by healthcare professionals (64%), researchers (39%) and not by patients (12%) or industrials (15%). Websites of patient organisations or foundations are more often consulted by industry (60%) or patients (54%).This analysis also underlines that Wikipedia remains a main source of information for all categories of respondents.

Question 11

How are you accessing Orphanet TODAY?

Only one response was possible for this question.

Via a computer at work

48%Via a computer at home

45%

Via a computer at an internet

café1%

Via a mobile device

6%

How are you accessing Orphanet TODAY?

About 45% of those who participated in this survey did so from home, whilst 48% did it from their workplace. The use of a mobile device with an Internet connection is growing and now represents 6% of the respondents.

Question 12

If you are a clinician, do you visit the Orphanet website...

96739

119125

132185

76

0

50

100

150

200

250

300

350

400

450

...during your consultations? ...after your consultations/during a break?

If you are a clinician, do you visit the Orphanet website...

Never

Sometimes

Often

Always

152012 user satisfaction survey of the Orphanet website in Englishhttp://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2012.pdf

Yes28%

No72%

Do you use your mobile device to look for information on Orphanet?

It appears that clinicians more often visit the Orphanet website after their consultations or during a break than during a consultation. Half of them never consult Orphanet during a consultation.

Question 13

Do you possess a mobile device (Smartphone, tablet)?

ANSWER OPTIONS

RESPONSE PERCENT

RESPONSE COUNT

Yes 61,5% 466

No 38,5% 292

Total 100% 758

A majority of our users declare that they possess a mobile device (smartphone or tablet). Amongst whom, 47% are health professionals.

Question 14

Do you use your mobile device to look for information on Orphanet?

ANSWER OPTIONS

RESPONSE PERCENT

RESPONSE COUNT

Yes 28,2% 131

No 71,8% 334

Total 100% 465

These results show that among the 61% of users that possess a mobile device (smartphone or tablet), more than a quarter (28%) of them use it to search for information on Orphanet. This already significant percentage is expected to increase with the introduction of the Orphanet mobile application for iOS (iPhone, iPad).

Question 15

Where do you use your mobile device to look for information on Orphanet?

People mainly consult Orphanet on their mobile device from home. Researchers and health professionals are more likely to consult it when they travel and at work.

Yes61%

No39%

Do you possess a mobile device (Smartphone, tablet)?

16http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2012.pdf2012 user satisfaction survey of the Orphanet website in English

Yes71%

No29%

Orphanet is developing a mobile application. Would you be interested in using it?

824

9 8 8

25

38

19 25 20

53

54

48

61

42

44

14

5436

60

0

20

40

60

80

100

120

140

At work At home When you commute When you travel During conferences

Where do you use your mobile device to look for information on Orphanet?

Never

Sometimes

Often

Always

Question 16

Orphanet is developing a mobile application. Would you be interested in using it?

ANSWER OPTIONS

RESPONSE PERCENT

RESPONSE COUNT

Yes 71,2% 329

No 28,8% 133

Total 100% 462

About the two thirds of our users would use the Orphanet mobile application.

Question 17

Which Orphanet service would you like to access using this application?

This question aims to determine the services that should be found in the Orphanet mobile application to best meet the needs of our users. They were asked to prioritise up to 4 services (between 1 to 4 choices possible).

The services users would like to find in the Orphanet mobile application are the classification, the inventory and the encyclopaedia of rare diseases, the disease-related genes, the assistance-to-diagnosis tool (search by sign facility) and the emergency guidelines.The mobile application, which has been released at the end of February 2012, provides most of these services. The assistance-to-diagnosis tool will not be available as the tool must first be redesigned. It could be added in a later version of the application.

172012 user satisfaction survey of the Orphanet website in Englishhttp://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2012.pdf

4,9%

12,3%

12,6%

13,5%

14,1%

14,4%

15,3%

16,0%

18,1%

18,7%

22,1%

27,6%

29,4%

32,8%

35,3%

39,3%

40,5%

0,0% 10,0% 20,0% 30,0% 40,0% 50,0%

the possibility to register your activity in the database

the directory of professionals and institutions

the newsletter Orphanews

the directory of ongoing research projects, registries and biobanks

the directory of clinical trials

the directory of expert centres

the inventory of orphan drugs

the directory of Patient organisations

the encyclopaedia for the general public

the downloadable reports in PDF of the Orphan Report Series …

the directory of medical laboratories providing diagnostic tests

the clinical guidelines of the professional encyclopaedia

the emergency guidelines

the assistance-to-diagnosis tool

the disease-related genes

the inventory and the encyclopaedia of rare diseases

the classifications of rare diseases

Which Orphanet service would you like to access using this application?

Question 18

How much would you accept to pay to download the Orphanet mobile application?

This question aims to determine the value of the Orphanet mobile application, bearing in mind that the Orphanet application will be free to access.

46,0% 11,4% 14,5% 16,4% 9,0% 2,8%

How much would you accept to pay to download the Orphanet mobile application?

0€ less than 1€ less than 2€ less than 5€ less than 10€ less than 30€

Although the majority (46%) would prefer the application to be free, 28.2% of site users are willing to pay more than 2 euros to download the application Orphanet and 11.8% between 5 and 30 euros.This relects that users of Orphanet value its services and would be willing to remunerate for a broader access.

18http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2012.pdf2012 user satisfaction survey of the Orphanet website in English

Conclusion

The results of the survey have helped the Orphanet team evaluate the expectations and needs of our users. Several improvements were planned in 2012 that have fulfilled some of the requests made by respondents in 2011: the first was to complete more disease summaries, and to at least give access to a definition for every condition; the next was to create a clearer and more user-friendly homepage that has been put on-line this summer; the third was to identify more clinical guidelines, whose numbers are growing.Finally, the Orphanet mobile application was launched in March 2013 and should help patients and professionals to maintain a direct link with information on rare diseases.

These developments aim to enable Orphanet to best fulfill its mission of providing quality information to the rare disease community.

For any questions or comments, please contact us: contact.orphanet@inserm.fr

Editor-in-chief: Ségolène Aymé Editor: Céline Angin Visual design: Céline Angin

The correct form when quoting this document is:

« 2012 user satisfaction survey of the Orphanet website in English », Orphanet Report Series, Reports collection, 2012,

http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2012.pdf

2013 Orphanet Partners survey

Joint action 20102206

18 out of 36 Country Coordinators answered the online partner survey

Have you been in contact with the Coordinating team of the Orphanet Europe Joint Action?

1

17

Thank you for having taken time to answer this survey. However the results may be biased since only 50% of the Orphanet

consortium partners answered the questionnaire.

25/44 Information scientists and 7/16 project managers answered the online

survey

Have you been in contact, these last 12 months, with the Coordinating team of the Orphanet Europe Joint Action?

PM

92%

8%

IS

23

2

100%

Yes

No

Country Coordinators’ satisfaction

Are you in overall terms satisfied by the support given by the coordinating team?

Information scientists’ and Project manager satisfaction

Are you in overall terms satisfied by the support given by the coordinating team?

Negative comments •There is a lack of feed back for most of the requests and/or comments. • Sometimes there are misunderstandings due to communication in non-native language. Many coworkers in the coordinating team change and the new staff needs to learn which of course takes some time and for us to get to learn the ways of their way of communication and strategy. • Issues to be improved: 1/The way global procedures are put in place: currently procedures are designed centrally and partners are being pushed to adopt them. A better approach would be to draw an initial procedure, check its viability with a first survey among the partners, make amendments to solve most handicaps in most countries so that it is adapted to a global market, then launch a second survey to refine this procedure. A procedure that is adequate to most countries in most situations will more easily be accepted and adopted by these countries. Finally, exceptions are necessary for countries that cannot comply at the time with the established global procedure. These countries/partners might need a bit more time. 2/ The way expertise and skills of partners are being overlooked. Has the central team checked if partners are experts with video conference calls? with surveys? with medical translations? with excel? Access? programming? bioinformatics? creating forms? creating tools? automation of processes and procedures? It seems that only the central team is good and able to do things, while partners might have a funded expertise gained in the current and/or previous roles. Example, a partner could be good at creating templates for documents, etc that can be made available to other partners, who might not have the time/expertise to do them alone.

Are you in overall terms satisfied by the support given by the coordinating team?

Positive comments • I always got complete and timely responses on my questions. • listen to issues. Try to resolve and support. quick response time • The instruction how to manage things are clear and I always get helpful answers to my questions quickly • I have received complete and timely answers and explanations for all my request and doubts exposed. • National teams are very well informed about all activities • Generally, the coordinating team have helped me in my doubts • the contact is ready available and effective • The team membres were readily available, they responded promptly to any questions and tasks. • Replies to emails are always very prompt. Questions are well answered and helpful. • Fast responses, always helpful • Àlways available and ready to answer with kindness and lots of information. Although, emails are sometimes not answered quickly. • The information very clear, easy and fast contact • The coordinating team has a lot of work, but if there are urgent requests they will help you right away. • I experience the coordinating team as very service minded. • In general, I am satisfied • They help you if you have questions. Correct and friendly.

Are you in overall terms satisfied by the support given by the coordinating team?

Answers from the Coordinating team •The reactivity of answers depends on the person to whom the question is addressed to and whether the mail is addressed to the right person. In order to know who to address your questions please refer to the list of contact points present on the OrphaNetWork website: https://network.orpha.net/network/cgi-bin/file/Orphanet_Coordinating_team_contact_list.pdf.

Moreover, the coordinating is understaffed and much effort has been invested to be able to satisfy the majority. In order to facilitate the mail exchanges and to be able to respond faster to your demand, please remember to address questions regarding the joint action contracts to sylvie.maiella@inserm.fr and all questions regarding other purposes (such as data) to is-coordination.orphanet@inserm.fr. This address regroups several people including the one who will take care of your demands. • 1) One role of the coordinating team is to develop tools that will benefit to all partners and although we try to adapt ourselves to the needs and requirements of each country partner we cannot make exception since we are a consortium governed by rules. Last but not least, we would also like to be informed of any changes in the composition of your team that is arrivals or departures 2) More involvement in developing procedures and tools that can adapt to all partners and to help solve the problems encountered is a priority to the coordinating team. An effort is made to propose regular training conference call to partners so as help them through the procedures. Moreover, with the establishment of the tool COLLECTOR, direct involvement of the team is foreseen. In order to allow partners to share their expertise, a “discussion room” will be proposed in June. 3) The general and technical SOPs are amended during the year (also in reaction to partners’suggestions& feedback) and discussed and validated during the Annual Management Board

OrphaNetWork website

7%

33%

20%

40%

once a day

once a week

once a month

less than once a month

How often do you make use of the OrphaNetWork website?

What do you use the website for most often? (multiple choices possible)

9

4

10

6

7

0 2 4 6 8 10 12

to access reports

to access links to Orphanet SOPs

to access the OrphaNetWork newsletter

to access the QA review

to access other documents

Response count

How often do you make use of the OrphaNetWork website?

What do you use the website for most often? (multiple choices possible)

OrphaNetWork website

13%

64%

20%

3% once a day

once a week

once a month

less than once a month

14

15

15

15

18

0 5 10 15 20

to access reports

to access links to Orphanet SOPs

to access the OrphaNetWork newsletter

to access the QA review

to access other documents

Response count

Are you satisfied with the OrphaNetWork website?

Negative comments • Not very friendly. Lack of other kind of documents mainly in the field of communication. • Rarely use as country coordinator, more often in conjunction with information scientist • Titles are not always representative to what we need to search for. • Too many SOPs, sometimes need to open many before finding the information i need.

Answers from the Coordinating team

In order to make the OrphaNetWork website more user friendly, the overall website will be redesigned in 2013 so as to provide easier access to the documents that are proposed on the website. Moreover, the technical SOPs will be actualised to enhance its usability. Unfortunately no specific budget is available for this project . A proposition of a new more effective way to access the documents will be discussed during the 2013 Annual IS training. Last but not least, a general presentation of the Orphanet Consortium will be made available on the OrphaNetWork website

Positive comments • It is o.k. for me • Information is well organized. • It has served so far all our needs and expectations. • Information scientist says that it works • All relevant information is easily available. • Clear and sufficient • For me fast and usually satisfactory contact • If I forget something, I can find it there • Clear and you find everything you need there.

How could the OrphaNetWork website be improved to make it more useful for you?

Negative comments • Improvement of the visibility of the new documents - Tools for communication. Access to presentation and publications (x3). •A faster actualization (x2) • Create a board where you can post messages/requests and make it available with archive function. This would be important for quality control and new disease/gene suggestions • OrphaNetwork website could be improved by providing: 1/ A quick notification field to report broken links, obsolete information, suggestions...etc without having to write an email (that never gets a reply) 2/ A "partner page/blog", where partners can raise questions, provide suggestions that can be commented by other partners/ central team. This can be extremely useful in order to find out existing handicaps, forecast future problems, develop new strategies in advance and prioritize IT tasks. 3/ A section where "in progress" and "future" tasks are listed including a "Volunteer" button/field so that partners show their interest and ability to help with these tasks. This will help the central team to delegate certain tasks to other partners while empowering partners and getting them more involved with the central administration (obviously contributions need to be acknowledged); one example could be training (excel, access, webex, surveymonkey), as I previously said, there is much expertise that is been overlooked. Also partners could suggest areas they could help or areas of expertise they have that can be interesting for the central team or other partners. 4/ A place where partners could upload their templates, tools, presentations, knowledge that could be useful for other partners. 5/ A partner “Moodmeter” (satisfaction’s status) on real time: 5, 6 fields/questions that measure the “mood” of partners in specific and relevant areas; Partners should be able to update this information any time. This will provide valuable and up-to-date information about issues that need to be addressed. And the best of all, NOTHING OF THE ABOVE MENTIONED REQUIRES THE IT INVOLVEMENT (If you are interested, I can draw you a model of how it could work) • Send out an e-mail when new documents have been added to people that want that • A more effective search tool • Cleanup of SOPs

How could the OrphaNetWork website be improved to make it more useful for you?

Answers from the Coordinating team • So as to improve the visibility as well as the accessibility to new documents, one of the priority of 2013 will be the reorganization of the OrphaNetWork website and this will be discussed during the 2013 Annual IS training . • With the establishment of COLLECTOR, direct involvement of the team is foreseen where each partner will be able to post requests and each of them will be archived. • In order to facilitate the mail exchanges and to be able to respond faster to your demand, please remember to address questions regarding the joint action contracts to sylvie.maiella@inserm.fr and all questions regarding other purposes (such as data) to is-coordination.orphanet@inserm.fr. This address regroups several people including the one who will take care of your demands. • It would certainly be fun to have a partner’s moodmeter but this would not be of big utility. Unfortunately due to the current staffing, we do not have time to dedicate to this projet.

ONW newsletter

47%

53%

Entirely

only the sections that interest you

rarely read it – not enough time

not interested

Are you satisfied with the OrphaNetWork newsletter?

How much of OrphaNetWork newsletter do you usually read?

Are you satisfied with the content of the newsletter?

Yes 67%

No 33%

Have you contributed to the newsletter?

0

2

4

6

8

10

12

Satisfaction level

0

1

2

3

4

5

6

7

8

9

Satisfaction level

Very dissatisfied

Neither satisfied or dissatisfied

Somewhat dissatisfied

Very Satisfied

Somewhat satisfied

N/A

Are you satisfied with the OrphaNetWork newsletter?

How much of OrphaNetWork newsletter do you usually read?

Are you satisfied with the content of the newsletter?

Have you contributed to the newsletter?

ONW newsletter

53% 45%

2%

Entirely

only the sections that interest you

rarely read it – not enough time

not interested

Yes 55%

No 45%

0

2

4

6

8

10

12

14

16

Satisfaction level

0

2

4

6

8

10

12

14

16

Satisfaction level

Very dissatisfied

Neither satisfied or dissatisfied

Somewhat dissatisfied

Very Satisfied

Somewhat satisfied

N/A

Are you satisfied with the OrphaNetWork newsletter?

Negative comments • Not all the information included seems to be useful for our work. • Some information are not useful for me sometimes • Good but long

Positive comments • It is always very interesting. • Comprehensive information, news from other countries etc. • It gives quite good information on what's on where and gives ideas for our own country. • It is useful for the follow up of Orphanet strategies. It is complete and informative. • Editorial" provides essential information that should be indexed and stored or incorporated to the relevant SOP/guideline. "To do" sections is very good but it can be improved (See question 12) “What is new at Orphanet” and “IT Projects” are very good and "essential reads • Good overview on current and future items, problems etc very useful for the coordination of the work during the project • The QAReview is more important for me but it is good to be able to follow up the news in the other countries, the link with the other teams. It can provide inspiration for activities of your own. it is o.k. for me • Very useful, especially the editorial section, the 'to do list', 'what's new at Orphanet and 'IT projects'. • It is well written, pleasant to follow and informative. • Clear information, useful • I am satisfied but it could be improved • Practical information for some tasks associated with the project • I'm satisfied with all (section that interest me)

Answers from the Coordinating team •The OrphaNetWork newsletter is sent within the Orphanet network to country coordinators, information scientists and Steering committee members. This newsletter aims to improve the management of the consortium by communicating on national team activities, recommendations, suggestions and achievements, providing information on the life of the website (What’s New on Orphanet), the project’s evolution and tools. The length of this newsletter strongly correlates the activities that have been undertaken by the partners. • Shorter articles could be an option, maybe monthly newsletter this issue can be adressed during the annual IS training

What could be done to improve OrphaNetWork newsletter?

• could be improved: EDITORIAL provides essential information and should be indexed and stored in OrphaNetwork to facilitate its retrieval when needed (instead of having to re-check previous OrphaNetworks to find it!). Otherwise, it could be incorporated to the relevant SOP/guides after it has been published that in this way will be up-to-date at any time. TO DO LIST is good, however the number of reminders is not very useful and it is annoying. It is not very useful because it does not help to get things done. The list of countries that need to provide a reply or carry out an action (as it happens in the QAR) is more informative and a better incentive (no one wants to see its country in these lists). Activities that can include a list are, for example, validation of activity report, IP rights, validation process and mandatory texts on national websites. It is annoying because many things could be pending on the central team rather than the partners. Example: the central team could provide a template to include the inclusion criteria for expert resources and then ask the partners to populate it.

•Layout

Answers from the Coordinating team •In order to retrieve essential information that would have first been indexed and stored in the OrphaNetwork, an API search similar to the one added on OrphaNews could be made available. • We could indeed provide, as in the QAR, a list of countries that needs to provide a reply or carry out an action. • All partners have received a template so as to include the inclusion criteria for expert resources.

Yes 67%

No 33%

Do you read the Quality Assurance review?

40%

60%

How much of the Quality Assurance review do you usually

read?

Entirely

only the sections that interest you

rarely read it – not enough time

not interested

Yes 93%

No 7%

Do you read the Quality Assurance

review?

61%

36%

3%

How much of the Quality Assurance review do you usually read?

Entirely

only the sections that interest you

rarely read it – not enough time

not interested

QA review

Country Coordinators’ satisfaction

Information scientists’ and Project manager satisfaction

Are you satisfied with the QA review contents ?

Country Coordinators’ satisfaction

Information scientists’ and Project manager satisfaction

Are you satisfied with the QA review contents ?

Negative comments • Bad format, indirect interaction with time delay makes it hard to discuss on important decisions, no archiv function, no systematic approaches. • Information on "Focus on", “New and procedures” is very useful and should be indexed and stored or incorporated to the relevant SOP/guides. •- “Follow-up on IT projects” is very interesting

- “Disease meeting report”, it would be interesting to know the status of your requests. In the actual format is too much information for little use. Plator and Arbor provide the necessary information.

- “Quality control of new entries” has a terrible format/system. I can imagine how tedious it is for the Central Team to prepare this document. Unfortunately is not very user-friendly. It is very difficult to track the status of pending requests. In many occasions the reply of the central team does not address the question asked by the partner. I would look into the possibility of using excel to prepare this report.

-“Pending projects”: Keep it shorter. A table with the relevant information (pending projects, deadlines, links and countries) would be better.

Answers from the Coordinating team • With the establishment of COLLECTOR, most of the contents of the QAR will disappear and the status of the request asked will be accessible.

Positive comments • it is o.k. for me • Concentrate and comprehensive information • Useful to improve the way of collecting and entering data. • Don't read enough of it to have an informed opinion • Clear overview everything is useful for my work • The QA Review is essential!!! It is also a very good way to keep all teams involved. Unfortunately there is too little time to do everything.

What could be done to improve QA review ?

I could help to prepare a table regarding pending projects and countries. I could look into ways to make an excel report for the "Quality Control of new entries" instead of a

word document. • Sometimes very hard to understand, should be reviewed by a native english speaker. • SOPs are needed • Separate the different countries

Answers from the Coordinating team • With the establishment of COLLECTOR, there will not be any QAR produced. Moreover, this suggestion has been discussed by the expert ressources team and it was pointed out that if the document was made in an excel format there would be a big loss in the reading quality. Indeed, in an excel format it will be impossible to see the « activity label », « the disease(s) and gene(s) it is linked to », the «decision », »the partner’s comment », « the coordinating team answer » and and the « action » all in a glance. • So as to improve the accessibility as well as the usability of the QA review, its content is proof read by a native english speaker. • As of January-February, to help the partners of the joint action to find their data, a chart summarizing the type of data to correct by country as well as a chart listing the countries still having some pending issues are available in the the Quality control meeting report of the QA review of January-February 2013. It would however be difficult to do the same for the pending issues as the current format allows the editor to give a brief description as well as URL links for each issue which would be impossible if the pending issues were separated by country.

13%

87% Yes

No

0

1

2

3

4

5

6

7

8

Satisfaction level

Are you satisfied with the quality of the document?

Were you involved in the elaboration of the SOPs

Standard Operating Procedures (SOPs)

Country Coordinators’ satisfaction

10%

90%

Yes

No

0

2

4

6

8

10

12

Satisfaction level

Are you satisfied with the quality of the document?

Were you involved in the elaboration of the SOPs

Information scientists’ and Project manager satisfaction

Very dissatisfied

Neither satisfied or dissatisfied

Somewhat dissatisfied

Very Satisfied

Somewhat satisfied

N/A

Are you satisfied with the quality of the SOPs?

Negative comments • Several SOPs are not updated (Medical laboratories, How to associate a document with an activity) • It is a document that is and needs to be always open for improvement

Answers from the Coordinating team

•The SOPs document is updated and amended once a year before the annual meting of coordinators, it is amended in consideration of partners feedback • all the coordinators receive the document to read and are invited to send suggestion that are discussed during the management board for validation • All the suggestions/amendements from the different team should be presented by the national coordinator for discussion during the management board.

0

1

2

3

4

5

6

7

8

9

Satisfaction level

Very dissatisfied

Somewhat dissatisfied

Neither satisfied or dissatisfied

Somewhat satisfied

Very Satisfied

N/A

Are you satisfied with the quality of the 2011 Activity Report?

Country Coordinators’ satisfaction

Information scientists’ and Project manager satisfaction

0

2

4

6

8

10

12

14

16

Satisfaction level

Very dissatisfied

Somewhat dissatisfied

Neither satisfied or dissatisfied

Somewhat satisfied

Very Satisfied

N/A

Positive comments • This is comprehensive and interesting to read about other centres • It reflects the ongoing activities, at least those with which I am more familiar. • Good lay-out, nice to read • It is a good summary of both you own and others work.

Are you satisfied with the quality of the 2011 Activity Report?

No negative comments

What could be done to improve the quality of the Activity Report?

Negative comments maybe a little extra text to explain activities

Answers from the Coordinating team So as to increase accessibility to Orphanet services, a detailed description of all the services proposed by Orphanet is available in the 2012 Activity report . Moreover, a specific paragraph has been added to each section so as to underline the main achievement of Orphanet in 2012.

2012 Orphanet Europe Joint Action meeting

87%

13%

Did you participate in the 2012 Orphanet Europe Joint Action

meeting?

Yes

No

0

1

2

3

4

5

6

7

Satisfaction level

Were you satisfied with the meeting?

Very dissatisfied

Somewhat dissatisfied

Neither satisfied or dissatisfied

Somewhat satisfied

Very Satisfied

N/A

Were you satisfied with the meeting?

Negative comments • Poor participation of the countries coordinators in the discussions. As the financial situation is quite difficult in most countries, it seems that there is a lack of involvement in the project. • There was not enough coordination at the meeting and track the decisions taken. • I would appreciate more direct contact with the coordinating team members by focusing on regional issues. • a lot of practical information. • Not much time for discussions

Answers from the Coordinating team We do agree that during last year meeting, country coordinators did not have enough time to participate in the discussion. To improve the situation, the agenda of the 2013 annual meeting will be organised such that more time for discussion is possible. A report of the decisions taken was sent to all partners and is available since July 2012 on the ONW website : https://network.orpha.net/network/cgi-bin/articles.php?lng=en&pg=144

Positive comments • Opportunity to meet, to discuss with representatives of other countries on issues related to rare diseases. This was a useful meeting to attend to gain views from other centres. • There were many common issues It was a bit short, but useful and nice to see all the partners again • It is always good to talk to the partners in the project face-to-face a lot of practical information • Very important for me as a new coordinator to attend.

What could be done to improve the Annual meeting of the Orphanet Europe Joint

Action?

Negative comments • Maybe more time for questions and answers (x2) • Better preparation beforehand, with a very clear agenda and documents and a better track of the discussion had and decisions taken. • I would appreciate more direct contact with the coordinating team members by focusing on regional issues. • The overview of countries participating in national plans and the role of Orphanet in these plans could have been given in another way that asking each partner. This was too much information for everyone.

Answers from the Coordinating team We do agree that during last year meeting, country coordinators did not have enough time to participate in the discussion. To improve the situation, the agenda of the 2013 annual meeting will be organised such that the time passed on the partner’s survey will be decreased and more time will be made available for questions and answers. Moreover, there won’t be any overview of countries participating in national plans and the role of Orphanet in these plans in the JA 2013 annual meeting.

Positive comments • It was OK, prepared in professional way • I appreciate is being done this year for ESHG- helpful for us who are traveling a long way.

2012 training

27%

73%

Did you participate in any of the 2012 distance

training?

Yes

No

0

0,5

1

1,5

2

2,5

3

3,5

Satisfaction level

Were you satisfied with the agenda of the trainings?

Very dissatisfied

Somewhat dissatisfied

Neither satisfied or dissatisfied

Somewhat satisfied

Very Satisfied

N/A

0

0,5

1

1,5

2

2,5

3

3,5

1 2 3

Nu

mb

er o

f p

arti

cip

ants

Number of distant training

How many distance trainings have you attended ?

66%

35%

Did you participate in any of the 2012 distance

training?

Yes

No

2012 training

0

1

2

3

4

5

6

7

8

9

Satisfaction level

Were you satisfied with the agenda of the trainings?

Very dissatisfied

Somewhat dissatisfied

Neither satisfied or dissatisfied

Somewhat satisfied

Very Satisfied

N/A

0

2

4

6

8

10

12

1 2 3 Number of distant training

Nu

mb

er o

f p

arti

cip

ants

How many distance trainings have you attended ?

Were you satisfied with the agenda of the trainings

Positive comments • These agenda training are really usefull and they are very well organised. • Very productive and the tool go to meeting very useful • Great concept to keep us updated, without having to do the travels. Perhaps, a better organisation. • As people get used to the system it will get better • It is good to go through specific issues at country level with the team (call conference) but also to discuss with the whole group (go to meeting) • Was chaotic due to the program

What could be done to improve the distance trainings?

Negative comments • When we are a lot of participants, it will be great that the specific internal country problem will be not discussed • Group of less people (x2) • Improve quality of connection • Slides can be sent in advance so that partners can take relevant notes while the speaker is talking. • Distance trainings concerning specific topics just started. Important, but actual IRL meetings for information scientists will stay necessary. • Cut off the microphones of everyone unless the speaker

Answers from the Coordinating team To allow smoother exchanges , we have organised each training session so as to have maximum 13 participants per session and for mandatory trainings, two dates were proposed. Moreover, at the beginning of each session, the participants are kindly invited to turned off their microphone during the conference call and to turn it on only when they wish to speak.

0

1

2

3

4

5

6

7

8

Satisfaction level

Very dissatisfied

Somewhat dissatisfied

Neither satisfied or dissatisfied

Somewhat satisfied

Very Satisfied

N/A

Are you satisfied with the questions of the 2012 annual USER survey posted on the

Orphanet website ?

Country Coordinators’ satisfaction

Information scientists’ and Project manager satisfaction

0

2

4

6

8

10

12

Satisfaction level

Very dissatisfied

Somewhat dissatisfied

Neither satisfied or dissatisfied

Somewhat satisfied

Very Satisfied

N/A

How could the Orphanet Annual user survey be improved?

Negative comments • Shorter • The pop-up about "Orphanet annual update" should not appear on www.orpha.net once you have completed the survey. It is really annoying! (x3)

Answers from the Coordinating team We do agree that the recurrent pop up of the Orphanet Annual user survey was annoying and this year we will make sure that the pop up will not reappear when opening up the Orphanet website if the survey has already been completed.

Do you have any final comments about the performance and impact of the work of the

coordinating team?

Negative comments •The requirements to improve the quality control of data is increasing every year (EUCERD criteria, Quality management for labs,..) compared to the available ressources (funding, manpower,..). The vast majority of people outside the backstage of Orphanet DO NOT realise how huge is the task and it becomes more and more difficult to satisfy higher and higher requirements without more funding. The coordinating team is constantly overwhelmed resulting most of the time in lack of feed back to numerous requests (on encyclopedia, classifications...) submitted by emails. Nevertheless, Orphanet is an amazing project giving greats opportunities to meet the different actors involved in the community of rare diseases. • The delay in entering the data to the database is too long - sometimes a year. Same thing is with tasks you ask to complete like mini-directories - there is nothing going on with that data. • Too busy • I would like to have a maybe biannual "feedback talk" with the coordinating team on problems (if there are some) the national team has to face in terms of working procedures. • Partners have not the possibility to provide feedback easily or effectively to the central team. Many emails are not replied in a reasonable time (a month), many are never replied. Partner’s suggestions seem to get lost, there is no feedback after providing them; it is not very motivating to take the time to write them down. • There are a lot of additional works to the basic employment and is difficult to fill these duties perfectly • More involvement of the National teams in the decisions

Do you have any final comments about the performance and impact of the work

of the coordinating team?

Positive comments • Just to say thank you for a very professional and helpful team • Keep up the good work! • Continue the good work! • I work the short time in Orphanet, but i think the coordinating team makes a good job. • Overall the opinion about the is very good • Overall great job! • There are a lot of additional works to the basic employment and is difficult to fill these duties perfectly • We all love you and the work you're doing and we will fight for orphanet at our side. • I appreciate all of the help provided to our team

We thank you for having taken time to answer this

survey. Your suggestions will be discussed in June for the

partner’s meeting

2013 Projects

2013 PROJECTS

(JOINT ACTION N°2012 22 06)

April 2013

2013 Projects

2

Orphanet 2013 projects

IT projects

1. Upgrade of the Orphanet database, website and software suite

A major upgrade of the database is planned in 2013 in order:

- to address the increasing needs of our users, - to improve the quality of the data collected and produced, in particular with the aim of

allowing inter-operability with other resources (databases, terminologies), - to simplify the data collection of expert resources at country level to increase the capacity of

national teams to act independently. - A new version of the database (Orph 42) will be launched later this year, and the whole suite

of applications will be updated in consequence. - New data features will be produced or collected, then published :

o Indicating the categories of phenomes inside the inventory of rare disorders o Producing automated texts for certain entries (i.e. diseases having merged with

another disease, or for which description is elsewhere in the database) o Publishing prevalence, incidence and birth prevalence figures per geographical zone o Publishing mappings with other terminologies/databases o Qualifying the relationships between terms, for diseases and for clinical signs. o Indicating the type of gene entries (i.e. genes, loci, mRNA) o Indicating the location of genes, all their past symbols and synonyms. o Indexing rare diseases with a disability thesaurus issued from the International

Classification of Functionning (ICF) - Data that will be improved

o Ages of onset and of death will be made more precise and consistent with categories used in public health registries

o Networks of expert centres, umbrella organisations and research networks will be better represented; networks of centres of expertise will be better identified.

o International clinical trials representation will be improved o Diagnostic tests will be better represented, introducing new precision on techniques

used and purpose for testing, allowing for the representation of new sequencing techniques, and to retrieve laboratories by the techniques they use.

- Some applications will be updated : o Orphanet website (ConsOR) o Orphanet download platform (Orphadata) o Orphanet data management tool (ExOR) o Orphanet edition tools(CollectOR, PlatOR) o Orphanet classification browser (ArbOR) o Orphanet statistics tool (UpdatOR)

2. Development of a new edition tool for expert resources (CollectOR)

In order to increase the autonomy of country teams vis à vis the coordinating team, and to integrate

the validation steps and decision making process into the edition tool, a web-based interface will be

2013 Projects

3

developed together with a pre-production database allowing for the life-cycle of every data entered

in Orphanet to be followed.

This tool will also allow professionals to register and update their data using a web-based, user-

friendly interface.

3. Development of the Orphanet mobile application for Android

Orphanet has launched its Apple-environment compatible application this year (iPhone, iPad, iPod).

An Android-compatible application will be developed in 2013.

Non-IT projects

1. Upgrade of the Orphanet Ontology of rare disorders

A beta- version of the Orphanet ontology of rare diseases has been launched on BioPortal as a result

of a collaboration with the INSERM ICS research Unit. This ontology is no longer updated as the

collaboration has now ceased. A partnership with the EBI (Functional genomic production team) is in

discussion in order to produce together the Ontology of rare disorders, which will contain rare

disorders, their relationships with genes (and their links to external resources, i.e. OMIM, HGNC,

UniProt, ensembl, Reactome, IUPHAR, Genatlas), mappings to another terminologies and resources

(SNOMED CT, OMIM, UMLS, MeSH, MedDRA, ICD10), and to clinical signs (mapped to HPO, UMLS,

SNOMED CT, PhenoDB, LDDB, MeSH, MedDRA). This ontology, in obo format, will be made available

at BioPortal and at Orphadata.

A first version of the Ontology should be available before the end of 2013.

2. Integration of the Orphanet nomenclature of diseases into SNOMED CT

A Memorandum of Understanding is in preparation with the IHT SDO in order to incorporate the

terms of the Orphanet nomenclature of rare disorders in the SNOMED CT to increase the visibility of

rare diseases in health information systems.

3. Development of a core-terminology for phenotypes

A collaboration with OMIM (PhenoDB), HPO, LDDB and IHT SDO is ongoing since September 2012 in

order to :

- produce mappings between the phenotype terminologies in use (mapping already done by Orphanet)

- achieve consensus on a core-terminology for phenotypes containing around 2,500 concepts used by the majority of phenotype terminologies

2013 Projects

4

- make mappings and core-terminology available to the community, in order to allow data-sharing and collaboration between databases (i.e. genomic variations and mutations registries)

4. Establishing a list of priority diseases for epidemiological surveillance

This is a French collaboration with the INVS (Institut National de Veille Sanitaire), intended to

complete a work initiated by the INVS but never completed. The objective is to collect the views of

the experts regarding the diseases which should be prioritised for epidemiological surveillance on the

basis of a set of criteria already established by an expert group (reference centres, patients

organisations, health authorities). Orphanet will analyse the response of the experts and will

produce the final report. It is expected for spring 2014.

5. Partnership with the European Medicines Agency (EMA)

A collaboration is envisaged with the Committee of Orphan Medicinal Products (COMP) of the EMA

in order to exchange information and share methods for the establishment of the prevalence of rare

diseases in the context of the designation process of Orphan Medicianl Products. In this framework,

common figures of prevalence of rare diseases for which an orphan drug has been approved by the

EMA could be published and endorsed by both partners. This will avoid publication of conflicting data

between the EMA and Orphanet as observed in the past and will secure the conclusions of the

COMP.

Contact : Marc Hanauer

Coordonnées : Orphanet 102 rue Didot 75014 Paris Tél : 01 56 53 81 49 Email : marc.hanauer@inserm.fr

Data from the 2013 user satisfaction surveyof the Orphanet website

www.orpha.net

2013

2http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2013.pdf2013 user satisfaction survey of the Orphanet website in English

Question 1. By what capacity are you consulting the Orphanet website TODAY? 3

Question 2. How did you discover Orphanet? 7

Question 3. How often do you visit Orphanet? 7

Question 4. What sort of information are you looking for during THIS CONNECTION to Orphanet? 8

Question 5. Do you regularly use the following sites when dealing with rare diseases? 8

Question 6. How are you accessing Orphanet TODAY? 9

Question 7. Have you downloaded the Orphanet application? 9

For any questions or comments, please contact us: contact.orphanet@inserm.fr

List of questions

Methodology

For any questions or comments, please contact us: contact.orphanet@inserm.fr

An on-line survey was designed in November 2013, using the online survey tool Survey Monkey (www.surveymonkey.com). In the first part of the survey, questions were based on previous Orphanet surveys carried out in 2012 and earlier.Questions focused on the professional activity of the users, their habits when they visit the Orphanet website and their opinion of the content.The survey was launched in December 2013: a pop-up window was added to the first page users landed on. The survey was translated into the 7 languagesof the website presently available at the moment(i.e.

English, French, Spanish, Italian, Portuguese , German or Dutch)) and was displayed respecting the language of consultation. The survey was closed after two weeks. The results from all languages are presented in this document.

32013 user satisfaction survey of the Orphanet website in Englishhttp://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2013.pdf

Question 1

By what capacity are you consulting the Orphanet website TODAY?

Health professionals (n=1230):

Hospital specialist; 460

General practitioner; 125

Independent specialist; 116

Expert in rare diseases; 34

Public health services; 50

Health service / health insurance; 33

Hospital pharmacist; 13

Independent pharmacist; 15

Biologist with expertise in rare diseases; 40

Biologist with no expertise in rare diseases; 27

Nurse; 50

Other healthcare professional (other than nurse); 69

Genetic counsellor; 44

Other ; 154

Hospital specialist

General practitioner

Independent specialist

Expert in rare diseases

Public health services

Health service / health insurance

Hospital pharmacist

Independent pharmacist

Biologist with expertise in rare diseases

Biologist with no expertise in rare diseases

Nurse

Other healthcare professional (other than nurse)

Genetic counsellor

Other

0 50 100 150 200 250 300 350 400 450 500

Healthcare professionals sub-category n=1230

Results

1234

896

139

38

44

55

322

94

Health professional

Patient/entourage/patient organisation

Research

Industry

Health care manager/policy maker

Education/communication

Student

Other

By what capacity are you consulting the Orphanet website TODAY? n= 2822

4http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2013.pdf2013 user satisfaction survey of the Orphanet website in English

Patient/entourage (n=867):

426

251

101

54

15

18

2

Patient

Mother/father/child of a patient

Other family member

Friend of a patient

Member of a patient organisation

Patient organisation administration

Other

Patient/entourage/patient organisation subcategory n=867

Research (n= 123):

41

44

13

9

4

7

5

Academic/clinical researcher

Academic/basic researcher

Industry researcher

Bioinformatician

Health economist

Social sciences

Other

Research subcategory n=123

52013 user satisfaction survey of the Orphanet website in Englishhttp://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2013.pdf

Industry (n=37):

30

1

6

0

0

Biotechnology and pharmaceutical

Private health insurance

Consultant for Industry

Investor / business developer

Other

Industry subcategory n=37

Health care manager/policy maker (n=39):

19

19

0

1

Governmental administration

Hospital administration

European administration

Other

Healthcare manager/policy maker subcategory n=39

6http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2013.pdf2013 user satisfaction survey of the Orphanet website in English

Education/communication (n=39):

4

3

1

11

16

4

Journalist

Librarian

Webmaster

Teacher (primary/secondary education)

Teacher (higher education)

Other

Education/communication subcategory n=39

Students (n=313):

231

82

Medical student

Other than medical student (please precise):

Med

ical

stud

ent

Oth

er th

anm

edic

al st

uden

t

Student subcategory n=313

72013 user satisfaction survey of the Orphanet website in Englishhttp://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2013.pdf

Question 2

How did you discover Orphanet?

1347

78

60

11

34

2

212

260

40

76

56

67

32

34

42

63

102

183

57

Google

Patient organisation’s website

Hospital website

On-line directory (Yahoo directory)

Wikipedia

HON

Doctor

Colleague

Friend/associate

Conference

Rare Disease Day

Newspaper/magazine/television/radio

Paper version of the Orphanet database

Person affected by a rare disease

Member of a patient organisation

Contact with Orphanet

Other

I don’t remember

Other search engine apart from Google: please specify

How did you discover Orphanet?

Question 3

How often do you visit Orphanet?

34%

25%

25%

16%

How often do you visit Orphanet?First visit First visit Over twice a year Over twice a year

Over twice a month Over twice a month Over twice a week Over twice a week

8http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2013.pdf2013 user satisfaction survey of the Orphanet website in English

Question 4

What sort of information are you looking for during THIS CONNECTION to Orphanet?

2375

452

344

287

357

262

100

595

195

91

57

29

48

59

Information for a specific disease

Information on laboratory tests

Information on research projects

Information on clinical trials

Information on specialist clinics

Information on patient organisations

Information on registries

Information on rare diseases in general

Information on orphan drugs in general

Information on the Orphanet project

Information on the newsletter

Visit to register your activity in Orphanet

Don’t know – just curious

Other (please specify)

What sort of information are you looking for during THIS CONNECTION to Orphanet?

Question 5

Do you regularly use the following sites when dealing with rare diseases?

4771215

252684

1116179200

777469

OMIMPubMed

GeneClinicsWebsites of learned societies

WikipediaSocial networking sites (personal)

Social networking sites (professional)Websites of patient organisations or foundation

None of them

Do you regularly use the following sites when dealing with rare diseases?

92013 user satisfaction survey of the Orphanet website in Englishhttp://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2013.pdf

Question 6

How are you accessing Orphanet TODAY?

Via a computer at work; 1006

Via a computer at home; 1419

Via a computer at an internet

café; 30

Via a mobile device

(Smartphone, tablet); 267

Question 7

Have you downloaded the Orphanet application?

yes7%

no93%

For any questions or comments, please contact us: contact.orphanet@inserm.fr

Editor-in-chief: Ana Rath & Ségolène Aymé Editor: Sylvie Maiella Visual design: Julie Christ

The correct form when quoting this document is:

« 2013 user satisfaction survey of the Orphanet website in English », Orphanet Report Series, Reports collection, 2012,

http://www.orpha.net/orphacom/cahiers/docs/GB/Orphanet_survey2013.pdf

Assessment of processes: report of the deliverables compared to plans-March 2012

1

Assessment of processes

Report of the deliverables compared to plans as of Year 1

(JOINT ACTION N°2012 22 06)

March 2012

Assessment of processes: report of the deliverables compared to plans-March 2012

2

Expected outcomes of the Joint action

The overall outcome is to serve as the reference source of information on Rare Diseases (RD) for European

citizens. The inventory of RD will be completed to be as comprehensive as possible and this inventory will

be made available as PDF documents for easy use by policy makers and health care managers. The

inventory will be published under several formats. The encyclopedia of RD will be expanded and updated,

translated into French, Italian, German, Spanish and into more languages if Member States (MS) decide to

support the translation. The directory of expert resources will be truly comprehensive. The expert

resources will be published as Orphanet report series for more effective communication. The whole dataset

will be directly accessible for re-use in XLM, Rich Data Format (RDF) and Ontology web language (OWL), to

ensure dissemination of the Orphanet nomenclature of RD and to maximize the use of collected

information on expert resources. The visibility and friendliness of the website will be improved as well the

governance to reflect the new involvement of health authorities of MS.

Specific Objectives status as of March 2012 - Year 1 (Y1)

1. Provide an inventory of RD and make it available in an user friendly format

The data collection of RD and of RD classification has continued, the update of this inventory is

carried out monthly.

The indexation of RD with prevalence data, genes and clinical signs was also carried out, this

information is available on the ID card of the disease.

The cross referencing with ICD10 was carried out and it is already available on the ID card of the

disease.

Orphanet terminology has been mapped automatically with UMLS, SNOMED CT, MeSH and

MedDRA. As soon as the automated mapping is expert validated, UMLS, SNOMED CT, MeSH and

MedDRA terms mapped to each Orphanet disease will be available on the ID card of the disease

(Second trimester 2012).

Indexing with ICF is ongoing.

The RD inventory is accessible for extraction by third parties at Orphadata.org.

2. Extend the encyclopaedia, improve its quality and translate if request by MS

Production of 872 expert summaries was carried out in Y1 and 273 abstract were updated

These texts are systematically translated in French, Italian, Spanish, Portuguese and German. An

updated selection is also translated in Polish.

Publication on the Orphanet website of 68 review articles published in OJRD and of 149 clinical

guidelines produced by other groups.

As shown by the high number of downloads and by the results of the user survey (cfr. 2011 Activity

report and 2011 user Survey), users seem extremely satisfied with this encyclopaedia.

3. Extend the data collection of expert resources and improve its quality

Data collection of expert clinics, medical laboratories, networks, clinical trials, disease and mutation

registries, orphan drugs designations and market authorisation and patient organisation was

carried out in all participating countries.

Assessment of processes: report of the deliverables compared to plans-March 2012

3

An annual update of the data carried out by contacting all the professionals listed in the database

was launched in December 2011.

The quality of the data present in the database was also improved as since of April 2011 a Quality

manager is in charge of the global quality assurance of the data and the validation processes are

agreed on by the national Health authorities of the MS.

Availability of the list of the expert service by country as PDF is foreseen in the summer of 2012.

4. Offer new ways to access and present the information adapted to the needs of each MS and each

type of stakeholder

36 Orphanet website front pages in national language were published to give access to information

specific to the country (news, events and policy documents).

The search engine in natural language has been added to the portal in French, English, Italian,

Spanish and Portuguese.

To adapt to the needs of each type of stakeholder: interactivity for information sharing was

implemented in the fall of 2011. This functionality was completed in early 2012 with the possibility

of posting comments on the disease pages of the international website in the 6 available languages.

5. Develop tools to optimise the workflow and modify the architecture of the servers

The current tools have been updated to be more user friendly (new Plator interface and new

registration forms), definitive tools are under development with an expected delivery date at M24.

The architecture has been modified to have separate servers for data storage, data acquisition and

data presentation since May 2011.The architecture of the servers was modified to improve security

of data and allow data extraction by third parties with a server of production and a server of pre

production. The server is accessible over 98-99% of the time.

Versioning of the database is carried out monthly.

Publication of data in various formats (XML, RDF and OWL) is available at orphadat.org as of June

2011.

6. Ensure optimal governance of the Joint action and efficient management of the workflow

In addition to the Management Board (MB), a Steering Committee (SC) and an Internal Advisory

Board (IAB) have been established during the Orphanet Europe Joint action kick off meeting in June

2011 in Paris.

The internal communication is carried out through OrphaNetWork a site which houses a wide range

of tools and informative documents which are updated regularly by the Orphanet coordinating

team and through the OrphaNetWork newsletter published every two months and the Quality

Assurance review published monthly. The newsletter aims to improve the management of the

network by communicating on national team activities, recommendations, suggestions and

achievements, providing information on the life of the website, the project’s evolution and tools.

The review is sent to the teams to help them collecting and updating information for Orphanet.

Annual meeting of partners has been organised (Y1 and Y2). The International Advisory Board was

solicited to contribute to the strategic plan of the Joint action following the compilation of the

activity report. A conference call with the members of the IAB was organised and comments of this

board were made available to the SC and the partners.

Commitment of experts to contribute to the editorial process to expert review the abstracts

produced will be organised in the forthcoming months.

Assessment of processes: report of the deliverables compared to plans-March 2012

4

Deliverables description and status as of March 2012 (Y1)

All the deliverables described hereafter are expected to be delivered at month 36.

This table indicates the numbering of each deliverable, its title, its deadline and its description, the last

column indicates whether the correspondent point has been reached (green: yes/y) or is ongoing (orange:

ongoing/o) as of Year 1. A comment in blue may complete the information.

# Title Ddl Description Status Y1

1 Inventory of RD with

identity card M36

List of all RD accessible as search terms on the website y

List of all RD accessible as list in pdf format o

List of all RD accessible as extractible data in RDF and Owl format

y

Data on cross referencing and epidemiology available in identity card of each disease

y

Indexation with signs o

Classification of all RD y

The list of all RD accessible is not yet available as PDF format, however the expected delivery date is June 2012

2 Collection of summary

on each RD M36

Production of structured summaries in English y

Translation in French, German, Italian, Spanish y

Translation in other languages y

1148 new or updated summaries have been produced in English in Y1 and translated in French, German, Italian, Spanish.Two new languages have been

added to the encyclopaedia: Portuguese and Polish

3

Collection of review articles, clinical

guidelines and patients leaflets

M36

Publication of 150 reviews in OJRD in 3 Years y

Publication of external reviews y

Publication of national clinical guidelines and patient leaflets y

In 2011, 68 reviews have been published in OJRD, 21 external reviews, 149 national guidelines and 5 patient leaflets.

4 Directory of expert services in Europe

M36

Availability on the website of list of expert resources and orphan drugs

y

Expert resources and orphan drugs indexed with diseases and/or genes

y

5

Development of Orphanet website by country. New search

facility and interactivity tools

M36

Availability of website in national languages y

Tools in place to manage these websites y

Training module y

Search facility in national language o

The search facility is already available in 6 languages

6

New architecture of the servers, new tools to

collect, validate, update and extract data and to manage the workflow

M36

Modify the architecture to have separate servers for data storage, data acquisition and data presentation

y

Internal newsletter every two months y

Tool in place to follow the workflow from collection to validation, publication and update (COLLECTOR)

o

The architecture of the server has been modified since May 2011 In Y1 6 internal newsletter have been published

Collector specifications are ready and the development has started in early 2012, the expected delivery date is M24.

Assessment of processes: report of the deliverables compared to plans-March 2012

5

7 Publication of Orphanet

report series as PDF documents

M36

Publication of annual activity report y

Publication of list of RD by prevalence y

Publication of the directory of resources by medical area and by country

o

Publication of list of RD by medical area o

Books o

The 2011 Activity report was published on the 29/02/2012 The List of RD by prevalence was published in November 2011

The directory of resources and the list of RD by medical area will be available by mid 2012

8 Organisation of annual meeting of SC,MB and

IAB M36

Organisation of annual meeting y

Organisation of IAB meeting y

Activity report of MB to SC y

Report of IAB to SC y

Recommendations from SC y

Y1 annual meeting was held on the 7&8 June 2011 Y2 annual meeting is held on the 23 May in Brussels

Activity report to SC sent in March 2012 Report of IAB to SC sent in March 2012

Recommendation from SC Y1 published in September 2011

9 Data to support internal and external evaluation

M36

Survey of website traffic by type of products and by language y

Statistics of data entry by country and type of data y

Annual satisfaction survey of users by language y

Referencing of Orphanet website by other websites o

Survey of Orphanet data reuse by others y

Survey published in the 2011 annual activity report Statistics of data entry by country and type of data available on the internal

website Annual satisfaction survey launched in Dec 2011 and published as an Orphanet

report series Referencing of Orphanet website by other websites is ongoing

Orphanet products were downloaded on Oprhadata.org more than 21,000 times since its launching in June 2011

10

Communication through leaflets, posters,

articles, booths, books, conferences

M36

Production of leaflets, posters, articles, books about Orphanet services in at least 5 languages

y

Communication at over 100 conferences and meetings y

Communication at over 70 congresses in 2011 and booths in 15 congresses Leaflets produced in English, French, Spanish, Italian, German and Swedish

Assessment of processes: report of the deliverables compared to plans-March 2012

6

Milestones description and status as of March 2012 (Y1)

# Title Ddl Description Status Y1

1 New tools in place M12 New tools are under development-expected delivery date M24

o

2 New architecture of the servers in place

M24 It is in place since May 2011 y

3 Establishment of the SC and IAB M3 SC and IAB established during the Kick off meeting in June 2011

y

4 Development of the tool to manage the Orphanet country website

M3 The tool to manage the national website was already developed at M1 y

5 Training of the partners to use new tools

M12 The Y1 training was held in January 2012 Video conf call training for the absent partners April 2012

y

6 Availability of the tool to Manage the national website

M3 The tool to manage the national website is available since M1

y

7 Availability of the new tool to collect and validate data

M12 COLLECTOR is under development and the expected delivery date is M24

o

Assessment of processes: report of the deliverables compared to plans-March 2012

7

WORKPACKAGE

DEL

NumDELIVRABLE

DDL DELDISSEMINATION

S Obj

NumStrategic OBJECTIVE

Obj

StatusAssociated Milestones

DDL

MLSExpected

WP1 Coordination D8Organisation of annual meeting of

SC,MB and IABONW newsletter

Establishment of steering

committee,management board, IAB in June

2011

M36

M36

New archtecture of the server

New tools in place M12 M24

WP4 Develop further

inventory and classification

of RD

D1 Inventory of RD with identity card M36

Orphanet website and

dedicated server to

extract the whole

inventory

S1

Provide an inventory of RD and

make it available in user friendly

format

Y1

D2 Collection of summary on each RD M36 S2

Extend the encyclopedia,

improves its quality and translate

it if requested by MS

Y1

D3Collection of review articles, clinical

guidelines and patietns leafletsM36 Y1

WP6 Develop further the

directory of expert services

in Europe

D4 Directory of expert services in Europe M36

Orphanet website and

dedicated server to

extract the whole

inventory

S3Extend data collection and

improve its qualityY1

Y1

New tools in place

Availability of the new tool to collect and

validate data

M12

M12M24

WP8 Put in place

procedures and tools to

ensure adequate

governance

S6

Ensure optimal governace of the

joint Action and efficient

management of the workflow

Y1

Establishment of steering

committee,management board, IAB in June

2011

Training of the partners January 2012

Establishment of the steering committee and

IAB

Development fo tolo to manage national

website

D10

communication through leaflets,

posters, articles, booths, books,

conferences

M36Booth, conferences,

articles in journals

WP5 Develop further

Encyclopedia of RD and

translate it

WP7 Develop tools to

manage efficiently the

workflow and improve the

friendliness of the website

D5

Development of orphanet website by

country. New search facility and

interactivity tools

M36

D6

New architecture of the servers, new

tools to collect, validate, update and

extract data and to manage the

workflow

M36 S5

Develop tools to optimize the

workflow and modify the

architecture of the servers

Intranet between partners

ORPHANET Joint Action (20102206): 8 WORKPACKAGES and associated Objectives, Deliverables and Milestones

M3

M12

M3

M6

M24

WP3 Evaluation M36ONW newsletter and

Intranet between partnersD9

Data to support internal and external

evaluation

WP2 Dissemination

D7Publication of Orphanet report series

as PDF documentsOrphanet website

M6

M24

M3

Orphanet website and

dedicated server to

extract the whole

inventory

Y1 New architecture of the server in place

Y1Avaibility of the tool to develop national

website Since April 2011S4

Offer new ways to access and

present the information adapted

to the needs of each MS and each

type of stakeholder

Orphanet website

Assessment of processes: report of the deliverables compared to plans-April 2013

1

Assessment of processes

Report of the deliverables compared to plans as of Year 2

(JOINT ACTION N°2012 22 06)

April 2013

Assessment of processes: report of the deliverables compared to plans-April 2013

2

Expected outcomes of the Joint action

The overall outcome is to serve as the reference source of information on Rare Diseases (RD) for European

citizens. For this scope, the inventory of RD will be completed to be as comprehensive as possible and

made available as PDF documents for easy use by policy makers and health care managers. The

encyclopedia of RD will be expanded and updated, translated into French, Italian, German, Spanish and into

more languages if Member States (MS) decide to support the translation. The directory of expert resources

will be truly comprehensive and it will be published as Orphanet report series for more effective

communication. The whole dataset will be directly accessible for re-use in XLM, Rich Data Format (RDF) and

Ontology web language (OWL), to ensure dissemination of the Orphanet nomenclature of RD and to

maximize the use of collected information on expert resources. The visibility and friendliness of the website

will be improved as well the governance to reflect the new involvement of health authorities of MS.

Deliverables description and status as of April 2013 (Y2)

This table indicates the numbering of each deliverable, its title, and its description, its expected delivery

and the actual delivery, the last column indicates whether the correspondent point has been reached

(green: yes/y) or is ongoing (orange: ongoing/o) as of Year 2. (Numbers rounded to the nearest whole digit,

date format: month/yy)

# Title Description Expected Delivered Y2 Status Y2

1 Inventory of RD with

identity card

List of 6.500 RD accessible as search terms on the website

2014 >4000 RD y

List of 6.500 RD accessible as list in pdf format

2014 Dec/12 y

List of all RD accessible as extractible data in RDF and Owl format

2014 Jun/11 y

Data on cross referencing and epidemiology available in identity card of each disease

2014 >4000 RD y

Indexation with signs 2014 >2700 RD y

Classification of all RD 2014 >4000 RD y

2 Collection of summary

on each RD

Production of structured summaries in English

1000/y >830 Abstracts y

Translation in French, German, Italian, Spanish

100% >50% of the Abs. produced

y

Translation in other languages 2014

>100 Abs. in PL & FI

y

3

Collection of review articles, clinical guidelines and

patients leaflets

Publication of 150 reviews in 3 Years

50/y y y

Publication of external reviews * N.D. >550 reviews y

Publication of national clinical guidelines** and patient leaflets ***

30/y >270 guidelines

and leaflets y

Assessment of processes: report of the deliverables compared to plans-April 2013

3

# Title Description Expected Delivered Y2 Status Y2

4 Directory of expert services in Europe

Availability on the website of list of expert resources and orphan drugs

2014 y y

Expert resources and orphan drugs indexed with diseases and/or genes

2014 y y

5

Development of Orphanet website by country. New search

facility and interactivity tools

Availability of website in national languages

2014 80% of the country sites

y

Tools in place to manage these websites

2011 2011 y

Training module 2014 2011 y

Search facility in national language 2014 DE/EN/ES/FR/IT/PT

/NL o

6

New architecture of the servers, new tools

to collect, validate, update and extract data and to manage

the workflow

Modify the architecture to have separate servers for data storage, acquisition and presentation

2012 2012 y

Internal newsletter 6/y 6 y

Tool in place to follow the workflow from collection to validation, publication and update

2012 Jun/13

Tool for update o

7 Publication of

Orphanet report series as PDF documents

Publication of annual activity report

1/y Feb/13 y

Publication of list of RD by prevalence

2014 Nov/12 y

Publication of the directory of resources by medical area and by country

2014 2012 y

Publication of list of RD by medical area 2014

Dec/12 List of RD (not by medical

area) o

Books 2014 o o

8 Organisation of annual meeting of SC,MB and

IAB

Organisation of annual meeting 1/y Jun/13 y

Organisation of IAB meeting 1/y May/13 y

Activity report of MB to SC 1/y May/13 y

Report of IAB to SC 1/y May/13 y

Recommendations from SC 1/y Jul/12 y

9 Data to support

internal and external evaluation

Survey of website traffic by type of products and by language

1/y Feb/13 y

Statistics of data entry by country and type of data

1/y May/13 y

Annual satisfaction survey of users by language

1/y Dec/12 y

Referencing of Orphanet website by other websites (crossreferencing)

2014 2012 y

Survey of Orphanet data reuse by others

1/y Feb/13 y

Assessment of processes: report of the deliverables compared to plans-April 2013

4

# Title Description Expected Delivered Y2 Status Y2

10

Communication through leaflets, posters, articles, booths, books,

conferences

Production of leaflets, posters, articles, books about Orphanet services in at least 5 languages

5 5 leaflets y

Communication at over 100 conferences and meetings

100/y >120 conferences y

* Clinical genetics reviews and article review

** Anesthesia gdl, clinical practice gdl, emergency gdl, and guidance for genetic testing

*** General Public articles

Milestones description and status as of April 2013 (Y2)

# Title Ddl Description Status Y1

1 New tools in place M12 New tools are under development-expected delivery date M36

o

2 New architecture of the servers in place

M24 It is in place since May 2011 y

3 Establishment of the SC and IAB M3 SC and IAB established during the Kick off meeting in June 2011

y

4 Development of the tool to manage the Orphanet country website

M3 The tool to manage the national website was already developed at M1 y

5 Training of the partners to use new tools

M12 The Y2 training is scheduled June 2013 Distant trainings have been set up once a month in the first semester 2013

y

6 Availability of the tool to Manage the national website

M3 The tool to manage the national website is available since M1

y

7 Availability of the new tool to collect and validate data

M12 Under development and the expected delivery date is M36

o

Assessment of processes: report of the deliverables compared to plans-April 2013

5

Specific Objectives status as of April 2013 - Year 2 (Y2)

1. Provide an inventory of RD and make it available in an user friendly format

The data collection of RD and of RD classification has continued, the update of this inventory is carried out

monthly (5/10 new diseases per month).

The RD inventory is accessible for extraction by third parties at Orphadata.org since 06/11 and as an Orphanet

report series since December 2012.

The indexation of RD with prevalence data, genes and clinical signs was also carried out, this information is

available on the ID card of the disease.

The cross referencing with ICD10 was carried out and it is already available on the ID card of the disease.

Orphanet terminology has been mapped automatically with UMLS, SNOMED CT, MeSH and MedDRA. The

automated mapping has been expert validated, UMLS, SNOMED CT, MeSH and MedDRA terms mapped to

each Orphanet disease are available on the ID card of the disease.

Indexing with ICF is ongoing and available on the ID card of the disease.

>90% of the end-users find this inventory v.useful or useful.

2. Extend the encyclopaedia, improve its quality and translate if request by MS

More than 3,500 expert summaries available in Y2.

These texts are systematically translated in French, Italian, Spanish, Portuguese and German. An updated

selection(>100 in Y2) is also translated in Polish and Finnish. Translation are ongoing in Greek, Slovak and

Dutch.

Availability of external resources: 552 reviews (article reviews and clinical genetics reviews), 270 guidelines

(Anaesthesia guidelines, clinical practice guidelines, emergency guidelines and guidance for genetic testing)

and 9 patient leaflets (general Public encyclopaedia).

As shown by the high number of downloads and by the results of the user survey (cfr. 2012 Activity report and

2012 user Survey), users seem extremely satisfied with this encyclopaedia: indeed ~90% of the end-users find

the encyclopaedia v.useful or useful.

3. Extend the data collection of expert resources and improve its quality

Data collection of expert centres, medical laboratories, networks, clinical trials, disease and mutation

registries, orphan drugs designations and market authorisation and patient organisation was carried out in all

participating countries.

The quality of the data present in the database was also improved as since of April 2011 a Quality manager is

in charge of the global quality assurance of the data and the validation processes have been established at

national level.

The list of the expert resources by country as PDF is available since the summer of 2012.

>70% of the end-users find the directory of expert resources v.useful or useful.

4. Offer new ways to access and present the information adapted to the needs of each MS and each

type of stakeholder

37 Orphanet website front pages in national language were published to give access to information specific to

the country (news, events and policy documents) (80% entirely translated in national language).

The search engine in natural language has been added to the portal in French, English, Italian, Spanish and

Portuguese. Translation of the whole content of the website has been started in Dutch (Belgian team).

To adapt to the needs of each type of stakeholder and to satisfy users’ request: interactivity for information

sharing was implemented in the fall of 2011. This functionality was completed in early 2012 with the

possibility of posting comments on the disease pages of the international website in the 6 available languages.

Assessment of processes: report of the deliverables compared to plans-March 2012

6

5. Develop tools to optimise the workflow and modify the architecture of the servers

The current tools have been updated to be more user friendly (new Plator interface and new registration

forms, MAJOR), definitive tools are under development with an expected delivery date at M36. The Professor

tool available since June 2013 allows professionals to register and update their data using a web-based, user-

friendly interface.

The architecture of the servers has been modified to improve security of data and allow data extraction by

third parties with a server of production and a server of pre production. The server is accessible over 98-99%

of the time. Since the migration of the servers in the summer 2012 to the CINES there are many production

environments: back-office, pre-production, preservation and development. This organisation improves the

Activity Recovery Plan (PRA) of the Orphanet website. Moreover the access to the back-office tool used by the

teams has been secured: VPN servers were set up and VPN (Virtual Private Netwwork) clients were deployed

across the teams in the 37 countries.

Versioning of the database is carried out monthly since Y1.

Publication of data in various formats (XML, RDF and OWL) is available at orphadata.org as of June 2011.

6. Ensure optimal governance of the Joint action and efficient management of the workflow

In addition to the Management Board (MB), a Steering Committee (SC) and an Internal Advisory Board (IAB)

have been established during the Orphanet Europe Joint action kick off meeting in June 2011 in Paris.

The internal communication is still carried out through OrphaNetWork, a site which houses a wide range of

tools and informative documents which are updated regularly by the Orphanet coordinating team and

through the OrphaNetWork newsletter published every two months and the Quality Assurance review

published monthly. The newsletter aims to improve the management of the network by communicating on

national team activities, recommendations, suggestions and achievements, providing information on the life

of the website, the project’s evolution and tools. The review is sent to the teams to help them collecting and

updating information for Orphanet.

Annual meeting of partners has been organised (kick off, Y1; Y2). The International Advisory Board was

solicited to contribute to the strategic plan of the Joint action following the compilation of the activity report.

Comments of this board were made available to the SC and the partners.

Training of the teams is organised once a year (Y2: June 2013) and distant trainings have been set up in (once

a month in the first semester of 2013) to ensure more regular trainings and also in “real time” with the

development of the new tools.

Assessment of processes: report of the deliverables compared to plans-April 2013

7

WORKPACKAGE

DEL

NumDELIVRABLE DDL

DELDISSEMINATION S Obj

NumStrategic OBJECTIVE Associated Milestones DDL

MLS

New tools in place: Professor June 2013 M12

New architecture of the server in place 2012 M24

D8Organisation of annual meeting of SC,MB and

IABM36 ONW newsletter

Establishment of steering committee,management board, IAB in June

2011M3

WP2 Dissemination D7Publication of Orphanet report series as PDF

documentsM36 Orphanet website

Training Y1&Y2 & distant. Establishment of the steering committee and

IAB. Development of tool to manage national website

M12

M3

M6

D10communication through leaflets, posters,

articles, booths, books, conferencesM36 Booth, conferences, articles in journals New tools in place: Professor June 2013 M12

New architecture of the server in place 2012 M24

D7 M36 ONW newsletter and Intranet between partners

D9Data to support internal and external

evaluation

WP4 Develop further

inventory and classification

of RD

D1 Inventory of RD with identity card M36Orphanet website and dedicated server to

extract the whole inventoryS1

Provide an inventory of RD and make it available

in user friendly format

WP5 Develop further

Encyclopedia of RD and

translate it

D2 Collection of summary on each RD M36Orphanet website and dedicated server to

extract the whole inventoryS2

Extend the encyclopedia, improves its quality and

translate it if requested by MS

D3Collection of review articles, clinical

guidelines and patietns leafletsM36

Orphanet website and dedicated server to

extract the whole inventory

WP6 Develop further the

directory of expert services

in Europe

D4 Directory of expert services in Europe M36Orphanet website and dedicated server to

extract the whole inventoryS3 Extend data collection and improve its quality

D5Development of orphanet website by country.

New search facil ity and interactivity toolsM36 Orphanet website S4

Offer new ways to access and present the

information adapted to the needs of each MS and

each type of stakeholder

Avaibil ity of the tool to develop national website Since April 2011 M6

D6New architecture of the servers, new tools to

collect, validate, update and extract data and

to manage the workflow

M36 Intranet between partners S5Develop tools to optimize the workflow and modify

the architecture of the servers

New tools in place & Availability of the new tool to collect and validate

data : Professor June 2013

M12

M12

New architecture of the server in place 2012 M24

WP8 Put in place

procedures and tools to

ensure adequate

governance

S6Ensure optimal governace of the joint Action and

efficient management of the workflow

Establishment of steering committee,management board, IAB in June

2011M3

Deadline not respected Abbreviation

WP Workpackage

Deadline ongoing DEL Num Deliverable Number

DDL DEL Deliverable deadline

Deadline respected S Obj Num Strategic objective number

DDL MLS Milestone deadline

SC Steering committee

MB Management Board

IAB International Advisory Board

M Month

WP1 Coordination

New architecture of the servers, new tools to

collect, validate, update and extract data and to

manage the workflow

D6

ORPHANET Joint Action (20102206): 8 WORKPACKAGES, OBJ, DEL AND MILESTONES

WP7 Develop tools to

manage efficiently the

workflow and improve the

friendliness of the website

WP3 Evaluation