Australasian Neuromuscular! Network(ANN)!

Australasian Neuromuscular Network (ANN) WORKSHOP REPORT 20-‐21 April 2011 Fremantle, WA Sponsor

ANN Workshop Report April 2011

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TABLE OF CONTENTS

Background.......................................................................................................................... 4 Vision ........................................................................................................................................................................................... 4 Mission ........................................................................................................................................................................................ 4 Goal............................................................................................................................................................................................... 5 Themes and Aims ................................................................................................................................................................... 5 Organisational Structure..................................................................................................................................................... 5 Community........................................................................................................................... 7

Aim of the workshop............................................................................................................ 8

Clinical Care Network ........................................................................................................... 9 Models of Care: Establishment of Neuromuscular Clinics.................................................................................... 9 Standards of Care/Clinical Guidelines........................................................................................................................... 9 Transition ............................................................................................................................................................................... 10 Training ................................................................................................................................................................................... 10 1 Year Goals ............................................................................................................................................................................ 11 5 Year Goals ............................................................................................................................................................................ 11

Registries ........................................................................................................................... 12

Clinical Trials ...................................................................................................................... 13 What is needed to establish a clinical trial centre................................................................................................. 13 Evaluating potential trials ............................................................................................................................................... 14 1 Year Goals ............................................................................................................................................................................ 14 5 Year Goals ............................................................................................................................................................................ 14

Diagnostic Network............................................................................................................ 15 The current landscape....................................................................................................................................................... 15 Network focus areas .......................................................................................................................................................... 16 Pathology................................................................................................................................................................................. 16 1 Year Goals ............................................................................................................................................................................ 16 5 Year Goals ............................................................................................................................................................................ 16 Molecular Diagnostics........................................................................................................................................................ 17 1 Year Goals ............................................................................................................................................................................ 17 5 Year Goals ............................................................................................................................................................................ 17 National Diagnostic Network ......................................................................................................................................... 18 5 Year Goals ............................................................................................................................................................................ 18 Prevention ............................................................................................................................................................................... 19 1 Year Goals ............................................................................................................................................................................ 19 5 Year Goals ............................................................................................................................................................................ 19

Research ............................................................................................................................ 20 1 Year Goals ............................................................................................................................................................................ 20

Funding.............................................................................................................................. 21 1 Year Goals ............................................................................................................................................................................ 21 5 Year Goals ............................................................................................................................................................................ 21

Delivering Coordinated Care: a roadmap............................................................................ 22

Appendix 1: List of participants .......................................................................................... 24


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MEETING THE CHALLENGES OF CARING FOR CHILDREN AND

ADULTS AFFECTED BY NEUROMUSCULAR DISORDERS IN AUSTRALIA AND NEW ZEALAND

The Australasian Neuromuscular Network (ANN) is committed to establishing a cohesive, integrated neuromuscular network that enables people to work together across Australia and New Zealand for the well being of patients.

We will provide a forum to advance and disseminate information, be a single voice to advocate for patients and guide best practice in diagnosis, care and treatment.

Our membership is open to all and includes patient organisations, clinicians, researchers, academics, industry and individuals with an interest in neuromuscular disorders.


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Background

The neuromuscular community within Australia and New Zealand has a very positive history of collaboration, in clinical and pathological studies of large patient cohorts, genotype/phenotype studies, gene discovery, the establishment of disease registers and clinical trials. It is this collaboration that resulted in a workshop held in February 2010 to discuss ways that diagnosis, management and treatment of disorders could be improved. The level of passion, commitment and enthusiasm demonstrated at the workshop led to the establishment of an integrated and coordinated neuromuscular network – the Australasian Neuromuscular Network (ANN). Given the rare nature of the disorders, and that patients are located all over Australia and throughout New Zealand, a collaborative network to address diagnosis, prevention and treatment is extremely important. The ANN is a coordinated and collaborative neuromuscular network that will enable people to work together across Australia and New Zealand, for the well being of patients. The ANN will provide a forum to advance and disseminate information, be a single voice to advocate for patients and guide best practice in diagnosis, care and treatment. The ANN is structured to address issues relating to clinical care and research effort. Each area has a Steering Committee comprising individuals with expertise in each area, as well as providing representation of all major groups active in the care and study of individuals with neuromuscular disorders across Australia and New Zealand. The ANN represents a critical step in the care and treatment of neuromuscular disorders – patients will benefit considerably through access to clinical trials (via international partners such as TREAT-‐NMD), new gene discoveries, improved diagnosis, new therapies -‐ towards achieving coordinated excellence of care throughout Australia and New Zealand. So far the ANN has over 270 members from all around Australia and New Zealand (clinicians, pathologists, scientists, allied health professionals, advocacy groups) and members of the ANN have played a key role in the development of Australia’s first national Duchenne muscular dystrophy registry, with others to follow. A website has been established (ann.org.au) where information will be shared and resources will be made available and regular e-‐newsletters are circulated to members. The ANN will work within the context of a rare diseases national plan -‐ issues that are relevant to the neuromuscular community are also likely to be of interest to other rare diseases.

Vision To ensure excellence in diagnostic methods and clinical management, and equal access to clinical trials and new therapies, for all individuals in Australia and New Zealand affected by neuromuscular disorders.

Mission To be a coordinated and collaborative voice at a national level to advocate for improved funding for diagnostic services, registers and clinical trials infrastructure. We can achieve our vision by establishing a cohesive, integrated neuromuscular network which enables people to work together across Australia and New Zealand, for the well-‐being of patients.


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Goal To improve health outcomes by providing:

•Guidance in best practice in diagnosis, care and treatment •Ready access to Standards of Care •A unified approach to ethical approvals and consent •Improved communication •Integrated training programs for clinicians and researchers •Assistance to set up multidisciplinary services •A single voice to advocate for our patients •Notification of opportunities to participate in registries, research studies and clinical trials •Improved coordination of research

Themes and Aims The ANN supports the translation of best evidence into improved clinical outcomes for patients and their families. This requires a multi-‐disciplinary coordinated approach to integrating laboratory and clinical research, through to clinical trials and improvements in medical practice. The ANN has established themes and aims to ensure that the best evidence is translated into best practice. 1. Patient Diagnostic Network To coordinate a national collaborative diagnostic service and research network for neuromuscular disorders that is cost-‐effective, maximises availability and minimises duplication of services. This will include introduction of new diagnostic methods. 2. Patient Registries To develop nationwide disease registers, based on accurate molecular diagnosis for patients with neuromuscular disorders, aligned with international registries such as the TREAT-‐NMD registries. 3. Clinical Trials and Clinical Network To establish a clinical trials framework for neuromuscular disorders accessible to patients around Australia and New Zealand. 4. Research Coordination of data collection and storage to facilitate large cohort studies initiated by individual investigators

Organisational Structure The ANN has established Steering Groups that are actively advancing the goals for each of the themes. The Chairs of each of the Steering Groups are individuals with expertise in each of the areas, and members of each group are representative of each state within Australia and New Zealand. The Steering Chairs form the ‘executive’ group that provides leadership for the ANN (Fig.1).


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Figure 1: Structure of the ANN

Australasian Neuromuscular Network

Steering Groups

Clinical Care: Prof Alastair Corbett (Co-Chair - Adult)

Dr Kristi Jones (Co-Chair – Paediatrics)

Diagnostics: Prof Nigel Laing (Chair)

Clinical Trials: A/Prof Andrew Kornberg (Co-Chair)

Dr Monique Ryan (Co-Chair)

Research: Prof Kathryn North (Chair)

Advocacy/Fundraising: Mr David Jack (Chair)

Members


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Community

The ANN has a number of community partners and is a member of TREAT-‐NMD. The relationship with advocacy and patient groups is a very important part of the ANN.


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Aim of the workshop

The aim of the workshop was to establish a roadmap for the ANN -‐ short-‐term goals (achievable within 1 year with limited funding) and longer-‐term goals (that are likely to be bigger picture more complex issues that will require funding the implement) -‐ that will result in improved health outcomes for patients. The priority areas for discussion included:

• Clinical Care Ready access to standards of care and registries Multi-‐disciplinary clinics in every state

• Clinical Trials Coordinate training of local evaluators/coordinators to increase access Identify opportunities for collaborative studies

• Diagnostic Network Increase link between diagnostic and research laboratories Expand registries to include other disorders What would the ideal national diagnostic network look like? -‐

• Research Promote investigator initiated national multicentre studies Coordinate patient data collection for joint research projects

Workshop participants included those who attended the inaugural workshop in 2010 as well as representative members of the Steering Groups. Any interested individuals are welcome to attend future workshops. Prof Hanns Lochmüller from TREAT-‐NMD attended as a special guest and provided invaluable guidance and feedback from an international perspective. All participants played an active role in discussions and this report reflects a consensus view of those discussions. The ANN strategic plan will identify key areas to maximise the health gain with limited resources in the short term, and in the longer term will help secure additional resources to create a national framework of the highest quality for all individuals affected by neuromuscular disorders.


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Clinical Care Network

Steering Chairs: Alastair Corbett (Adult) & Kristi Jones (Paediatrics) The Clinical Care Network is an inclusive community and welcomes all clinicians involved in or have an interest in neuromuscular disorders. It aims to be a communication portal for clinicians and researchers, via the ANN website, newsletters and email forums. The focus of the Clinical Care Network will be to provide:

•Ready access to Standards of Care and Data Collection Proformas for patient management and diagnosis •A unified approach to ethical approvals and consent •Improved communication to discuss patients •Notification of opportunities to participate in registries, research studies and clinical trials •Opportunity for Special Interest Groups to develop in areas not covered by the initial plans (which have a muscle focus) – e.g. diagnosis of neuropathies, adult neuromuscular disorders, allied health network. •Opportunities to provide integrated training programs for clinicians and researchers •Assistance to centres to set up multidisciplinary services

Models of Care: Establishment of Neuromuscular Clinics It is widely acknowledged that patients who have access to a specialised service for their rare condition have better outcomes in terms of both their health and general well-‐being than those who do not. And most neuromuscular disorders affect multiple body system that require a number of specialists to be involved in the care and treatment of patients. The ANN is committed to advocating for the expansion of multi-‐disciplinary clinics within Australia and New Zealand. Using local and overseas models, the ANN will establish a national guideline that can be used as a template for a business plan to lobby local health systems and state and federal governments for funding. The guidelines will address staffing, resources and minimum standards for access to support services such as rehabilitation, cardiac investigation and management, respiratory assessment and management and pain management. However, until such time as funding is available to expand into each state, a hub and spoke model of communication could be established between multi-‐disciplinary clinics and local centres. The ANN would provide the forum to connect local GPs with specialists and the opportunity to discuss specific cases within a network.

Standards of Care/Clinical Guidelines While it may be difficult to provide every patient with immediate access to a multi-‐disciplinary clinic and specialist care, the ANN will disseminate standards of care via its website and regular newsletters, with links to the TREAT-‐NMD website as a source of international standards of care and other resources. The Clinical Care Network provides an opportunity to develop guidelines for Australian issues relating to neuromuscular disorders, to promote and achieve high quality and equitable care for patients.


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Disease specific guidelines that are needed include: •Pulmonary assessment, monitoring and management •Cardiac monitoring assessment and management •Swallowing assessment and management •Nutritional assessment and management •Orthopaedic care •Rehabilitation management of cognitive and behavioural disorders •Other organ involvement •Perioperative care •Critical care •Palliation •Swallowing assessment and management •Nutritional assessment and management •Orthopaedic care •Rehabilitation including

o Exercise, stretching, physiotherapy, occupational therapy o Orthotics and assistive devices o Posture management o Pain management

Due to the limited resources available to the ANN, it may be necessary to prioritise critical areas that need guidelines based on the patient experience. For example, CARE-‐NMD is undertaking a three (3) year project to improve the quality of care for Duchenne muscular dystrophy in Europe. The results of the survey will identify areas where current provision is lacking, and disseminate information about best practice care standards. The ANN will undertake a gap analysis of Australian DMD patients as a pilot study, using a modified version of the CARE-‐NMD survey, to assist in prioritizing effort. The ANN will also lead the development of international Standards of Care with the support of TREAT-‐NMD for disorders that are relevant to Australian and New Zealand patients -‐ Myotonic muscular dystrophy and Charcot-‐Marie-‐Tooth disease will be the initial focus of the ANN.

Transition Transition from paediatric to adult services is also an important area where guidelines are needed. The ANN can support the development of generic guidelines that can be adapted within each health network. A transition guideline is being developed within NSW that could be adapted for broad circulation to ANN members. The guidelines developed by the ANN will involve patients, carers and support groups (WA is developing a mentor program) as well as medical groups such as the AAN and ANZAN.

Training Information and training of healthcare professionals play a crucial role among the areas leading to the improvement of diagnosis and care. Many trainees have limited access to speciality clinics, particularly adult neurologists in training who do not see neuromuscular cases unless they attend a specialist clinic. The ANN will focus on providing opportunities for trainees to attend clinics and encourage trainees to attend other hospital neuromuscular clinics if the training hospital does not have one. The ANN will also promote neuromuscular disorders as a viable sub-‐speciality, as well as involvement in neuromuscular research. Opportunities for training should also be made available for nursing and allied health professionals. The ANN will identify those involved in neuromuscular clinics to invite them into the ANN, to share their expertise and experience, and to be given opportunities for professional development.


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1 Year Goals Ready access to Standards of Care Develop disease specific guidelines relating to clinical issues Develop guideline for transition Engage adult clinicians, as well as professional groups including AAN and ANZAN Develop guideline for multi-‐disciplinary clinic Undertake a gap analysis study using DMD as a pilot (using Care-‐NMD as template) Identify training opportunities In partnership with TREAT-‐NMD, lead the development of Myotonic standards of care

5 Year Goals Transition guidelines fully implemented Opportunity for other Special Interest Groups eg Allied Health Forum to discuss difficult clinical/ethical issues Collaborative clinical research Integrated training programs


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Registries

Registries are an essential resource for large clinical trials. They can facilitate dissemination of standards of care to patients and clinicians, and identification of subjects eligible for clinical trials. This will result in raising the standards of care of DMD and other conditions for which registries exist. The establishment of an integrated network of registries will:

• Increase the quality of clinical trials being conducted in Australia • Increase the number of trials conducted • Increase the number of patients routinely being offered clinical trial participation in a greater variety of clinical settings • Increase the timeliness and efficiency of recruitment • Ensure equity of access to clinical trials for all patients in Australia and New Zealand

The ANN will promote and champion registries. The DMD registry is operational, with Myotonic dystrophy and Spinal Muscular Atrophy registries to be launched very soon. The CMT1A registry is available via the NIH Rare Diseases Clinical Research Network, of which A/Prof Joshua Burns, a member of the ANN, is a participating institution in genetic studies. There is also a growing local database of congenital myopathy and congenital muscular dystrophy patients, and Cure CMD has launched the first congenital muscle disease international registry (CMDIR). As more registries come on line it places an administrative burden on clinicians to enter non-‐clinical patient details upon initial registration. The ANN will work with Hugh Dawkins (Curator of the Australian National DMD Registry) to modify the online data collection forms so that patients can complete this section ahead of time, or seek out support from parents, carers or local patients support groups.


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Clinical Trials

Steering Chairs: A/Prof Andrew Kornberg & Dr Monique Ryan The ANN aims to consolidate a clinical trials network involving centres in Australia and New Zealand give all patients access to new clinical trials, ensuring immediate access to new therapies. In order to ensure access to new therapies, the Australian and New Zealand sites must:

• Know our patient numbers and have patients well characterized • Adhere to Standards of Care • Identify expertise and experience in conducting clinical trials

Australia is considered, along with the US, UK and Europe, as a viable first line site in which to conduct clinical trials. Our strengths are that we have experience and world-‐class expertise in neuromuscular disorders, in diagnosis, clinical care and research and a relatively small neuromuscular community with a positive history of close collaboration. Currently, the main paediatric clinical trial centres are in NSW and Victoria, with adult trials undertaken in WA. Queensland has developed a business case and is in the process of lobbying for a multi-‐disciplinary clinic. To ensure that all eligible patients have the opportunity to participate in the trial, patients from other Australian states have been recruited into the current GSK trial through NSW and Victorian sites; however this has provided added difficulties for both patients and the trial coordinators due to the frequency of interstate travel required. It will take a significant increase in funding to establish clinical trials in each state. In the meantime, the ANN will facilitate the establishment of paediatric clinical trials in WA, as well as providing local evaluator training to Qld, SA and WA to support less intensive trials that can be undertaken through local clinics.

What is needed to establish a clinical trial centre Clinical trials are complex and require much planning – the number of potential recruitments needs to be predicted, funding needs to be in place well ahead of the trial starting to support a clinical trial coordinator and access to and funding for genetic testing, physiotherapy and pharmacy support needs to be in place. Staff

• A PI (physician) and two backup clinicians Medical staff always available for initial/ follow-‐up appointments and on-‐ call for possible adverse events

• A clinical trials coordinator • Ethics submissions

Data entry and management Reporting of labs and other results Organisation of patient visits and appointments Preparation for audits Send-‐ away of specimens

• At least two trained evaluators


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Support • Reliable flexible competent surgeon for taking muscle biopsies • Helpful kind cardiologist • Endocrinologist (BMD studies) • Trial / research pharmacologist • Blood collector-‐ timely taking of samples • Laboratory staff able to process specimens in a timely fashion +/-‐ dispatch for

analysis

Evaluating potential trials As the number of potential new therapies increases, there is a need for a formal review of which clinical trials would be offered to Australian and New Zealand patients to ensure safety and ensure the best chance of improved health outcome. For local investigator driven trials, members of the ANN could evaluate proposals, and the TREAT-‐NMD Advisory Committee for Therapeutics would assess international trials.

1 Year Goals Training clinicians / local evaluators/coordinators Circulation of information concerning new trials Identification of opportunities for collaboration Data seeding to national and international registries Make clinical trials available to individuals in all states

5 Year Goals Establish multidisciplinary clinics – adult and children – in each state Establish new clinical trial centres Expand existing trial programs


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Diagnostic Network

Steering Chair: Nigel Laing

The current landscape •There is currently no standardised over-‐arching national approach to diagnosis of neuromuscular disorders. Health departments fund most pathology services with no coordination from state to state. For some states there is also no coordination between local area health services. •Without standardised guidelines, inefficiencies arise in obtaining, handling, storage and processing of samples. In some cases this has a significant negative impact on the diagnostic process and patient welfare. New tests are incorporated into diagnostic panels through validation from publications, advice from researchers/experts in the field and the experience of others in the field. The aim is to ensure that all centres have sufficient knowledge, expertise and funding to match international standards. The introduction of new technologies, such as chip technology and next generation sequencing will significantly change the diagnostic landscape over the next few years. A web-‐based resource will be key to establishing a standardised approach. •Diagnostic testing has been developed within a number of Australasian research laboratories based on individual interests. While this has significantly improved the diagnosis for a number of individual conditions – usually free of charge -‐ this decentralised and non-‐systematic approach to testing is not sustainable in the long-‐term, and is not best practice to ensure the optimal health outcomes for patients on a national scale. •There is a need to develop guidelines for the translation of established diagnostic tests from research laboratories to accredited diagnostic laboratories for incorporation into a validated panel of tests. •The diagnostic services provided by research laboratories are vulnerable to changing research priorities. An integrated network linking research and diagnostic laboratories would promote the continuous and rapid translation of new tests to standardised diagnostic protocols. Aims: •Develop guidelines for the collection of clinical information and specimen collection and ensure that new published guidelines are made available to ensure consistent and coordinated uptake of new information. This also includes the development of standardised consent forms/information sheets for patient inclusion in research studies •The current funding model supporting diagnostic labs in each state will impede development of a national neuromuscular network. A central funding source of support for diagnostics of NMD is essential to avoid duplication of services, increase availability and cost-‐efficiency •Develop a proposal for funding based on consensus of the best working model within the Australian environment. UK diagnostic data demonstrates cost-‐efficiency through avoidance of inappropriate testing. This can be incorporated into the proposal for funding. The network will work with patient advocate groups to lobby government •Establish a model for improved coordination between research and diagnostic laboratories and translation from the research laboratory into diagnostics •Develop guidelines for approach to diagnosis – what tests are available and where – and make centrally available via website.


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•Address ethical issues and standardise consent and procedures for samples moving between diagnostic and research labs

Network focus areas

Pathology Tissue specimens are used to describe the biology of the patient and the biology of his or her disease and good quality specimens are paramount in arriving at a rapid and accurate diagnosis. As such specimens must be collected and processed following standards that safeguard quality. The ANN will facilitate the development of a generic set of guidelines for the collection of muscle, nerve and skin that can be easily adapted within local health areas. There are also vast biospecimen collections within Australia – while these collections would continue to be housed locally and maintained by local research/clinical groups, de-‐identified information relating to specimen banks may be more accessible to research groups if made available through a web-‐based databank. The ANN can faciliate the development of a virtual bank, similar to the EuroBiobank Bank and Australia’s Brain Bank. There may also be funding opportunities in the future to establish a centralised myoblast culture development site as a research resource. While patients are scattered throughout Australia and New Zealand, one area that can overcome the tyranny of distance is diagnostics. ANN will connect laboratories involved in diagnosis via telepathology. The technology is in place in WA and Victoria, and a survey will be undertaken of other areas. This technology means that problem cases can be discussed to aid diagnosis/help diagnostic accuracy across Australasia.

1 Year Goals •Standard protocols around specimen collection for muscle, nerve and skin •Consent form – muscle biopsy •List of tests and in which laboratories they are done (updated every 3 months) •Online discussion/education via website

5 Year Goals •Muscle bank (similar to Australian Brain Bank) •Use modern communications/telepathology within the ANN (“the remote pathologist”)


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Molecular Diagnostics Diagnostic testing has been developed within a number of Australasian research laboratories based on individual interests. While this has significantly improved the diagnosis for a number of individual conditions – usually free of charge – this decentralised and non-‐systematic approach to testing is not sustainable in the long-‐term, and is not best practice to ensure the optimal health outcomes for patients on a national scale. There is a need to develop guidelines for the translation of established diagnostic tests from research laboratories to accredited diagnostic laboratories for incorporation into a validated panel of tests. Rationalisation and coordination will be particularly important in the context of next generation sequencing. The ANN will maintain a list of what tests are available, where they are done, contact details as well as expertise in next generation sequencing and associated data analysis.

1 Year Goals •List of tests and in which laboratories they are done (updated every 3 months) •Online discussion/education via website •Implementation of next generation sequencing into diagnostics

5 Year Goals •Link diagnostic and research laboratories within Australasia •Identify gaps and cross-‐over to rationalise resources, skills etc •Funding is needed to make testing equally available


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National Diagnostic Network There is currently no standardised over-‐arching national approach to diagnosis of neuromuscular disorders. Health departments fund most pathology services with no coordination from state to state. For some states there is also no coordination between local area health services. Without standardised guidelines, inefficiencies arise in obtaining, handling, storage and processing of samples. In some cases this has a significant negative impact on the diagnostic process and patient welfare. Currently the diagnosis of a rare condition can depend to a large extent on geographic proximity to the specialist centre for that condition. It is often the case that the closer an individual lives to a specialist centre, the more likely they are to come to attention and be diagnosed if they have that condition. A national diagnostic network would overcome these problems, and would streamline the process to ensure that specialist support was available to every individual. This of course will take substantial amount of funding, lobbying and political will to overcome hurdles placed by state operated health departments. The ANN will proactively facilitate discussion to develop a national model that will also involve a mechanism for the introduction of new tests and technologies. This model will form the basis of a formal proposal to government for funding.

Figure 2: Possible model of a national diagnostic network for discussion

5 Year Goals •Define what the ideal diagnostic network would look like


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Prevention Prevention diagnostics involves developing population screening programs to diagnose, for example, boys with Duchenne muscular dystrophy early, before symptoms develop, to allow early entry into treatment trials and prevention of secondary cases within families. In the future, prevention strategies may be based on next-‐generation DNA sequencing protocols allowing preconception screening for multiple recessive diseases.

1 Year Goals •Establish levels of interest in different centres across the country for participation in investigating population screening protocols for Duchenne muscular dystrophy. Work towards establishing pilot studies of population screening for Duchenne muscular dystrophy.

5 Year Goals •Run pilot studies of population screening for Duchenne muscular dystrophy •Investigate acceptability and feasibility of preconception carrier screening for multiple severe recessive disorders based on next-‐generation sequencing.


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Research

Steering Chair: Kathryn North Researchers within the ANN are at the forefront internationally within the field. A formal network will strengthen research excellence by overcoming fragmentation of research efforts, and will connect researchers, and clinicians with research questions, to support collaborations, and avoid duplication of effort, competing for the same funding dollar and identifying new areas of research. A collaborative network would allow large cohorts of patients to be included in gene discovery, screening and linkage studies, as part of a research work-‐up to underpin diagnostics, registries and clinical trials. It is through research effort, for example, that the introduction of next generation sequencing and the analysis of large data sets (informing diagnosis and inclusion in registries) will be developed for translation into diagnostic laboratories. The ANN will promote and facilitate the sharing of information and expertise between basic and clinical researchers, clinicians and clinician researchers, to accelerate improved outcomes for patients.

1 Year Goals •Circulate information/call for interest to initiate or participate in collaborative studies


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Funding

• Identify opportunities for fundraising for infrastructure to support network in an ongoing and sustainable fashion

• Identify opportunities with Government for advocacy and funding • Develop financial model to distribute funds raised jointly

1 Year Goals •Submit infrastructures grants and identify fundraising opportunities •Develop financial model

5 Year Goals •Secure sustainable funding


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Delivering Coordinated Care: a roadmap

1 YEAR GOALS 5 YEAR GOALS

Clinical Care

Ready access to Standards of Care Transition guidelines fully implemented

Develop disease specific guidelines relating to clinical issues

Opportunity for other Special Interest Groups eg Allied Health

Develop guideline for transition Forum to discuss difficult clinical/ethical issues

Engage adult clinicians, as well as professional groups including AAN and ANZAN

Collaborative clinical research

Develop guideline for multi-‐disciplinary clinic

Integrated training programs

Undertake a gap analysis study using DMD as a pilot (using Care-‐NMD as template)

Identify training opportunities In partnership with TREAT-‐NMD,

lead the development of Myotonic standards of care

Clinical Trials

Training clinicians / local evaluators/coordinators

Establish multidisciplinary clinics – adult and children – in each state

Circulation of information concerning new trials

Establish new clinical trial centres

Identification of opportunities for collaboration

Expand existing trial programs

Data seeding to national and international registries

Make clinical trials available to individuals in all states

Diagnostics Pathology Standard protocols around specimen

collection for muscle, nerve and skin Muscle bank (similar to Australian Brain Bank)

Consent form – muscle biopsy Use of modern communications/telepathology within the ANN (“the remote pathologist”)

List of tests and in which laboratories they are done (updated every 3 months)

Online discussion/education via website


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Molecular List of tests and in which laboratories they are done (updated every 3 months)

Link diagnostic and research laboratories within Australasia

Online discussion/education via website

Identify gaps and cross-‐over to rationalise resources, skills etc

Implementation of next generation sequencing into diagnostics

Funding is needed to make testing equally available

National network

Define what the ideal diagnostic network would look like

Prevention Establish levels of interest Run pilot studies of population

screening for DMD Investigate acceptability and feasibility

of preconception carrier screening for multiple severe recessive disorders based on next-‐generation sequencing.

Research Circulate information relating to

collaborative studies

Funding Submit infrastructures grants and

identify fundraising opportunities Secure sustainable funding

Develop financial model


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Appendix 1: List of participants

Alastair Corbett Anita Cairns

Carl Adkin (Thurs am) David Jack

Deb Robins (Wed pm) Gina Ravenscroft Hanns Lochmuller Hugh Dawkins Jan de Frank John Gummer Kathryn North Klair Bailey

Kristen Nowak Kristi Jones Kristy Rose Leanne Mills Leigh Waddell Lynda Rigby Mark Davis

Marty Davis (Wed pm) Michelle Farrar Monique Ryan Nigel Laing Paul Kennedy Phillipa Lamont Rachael Duff

Ric Sicurella (Wed pm) Sue Fletcher

Australasian Neuromuscular! Network(ANN)!

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