1. Results of a survey onthe role of Patient Groups in Research and their priorities for the future Florence Paterson Centre de sociologie de linnovation, UMR CNRS 7185 - Mines-ParisTech Paris, France

2. 2010 Survey on PatientOrganisations and Research results from a joint collaboration between Fabrizia Bignami EURORDIS Paloma Tejada Franois Faurisson Julia Fitzgerald and the Anja Helm Madeleine Akrich Centre de sociologie Vololona Rabeharisoa de linnovation Florence Paterson Frdric Vergnaud Michel Callon

3. A few words on the works of the Centre desociologie de linnovationContribution to Science and Technology Studies understanding the rise of technical democracyForms of participation of civil society organizations in scientific and technical activities and debates impact on the modes of production of knowledge and on scientific practices upshot on the emergence and the increase of collective mobilizations around science issues

4. Research questionsLay knowledge and expertisePOs expertise: to what extend is the claim to hold an expertisebased on the mobilization of experiential knowledge coupled with theacquisition of certified knowledge?In what form do patients collectives mobilize experiential knowledge& certified knowledge: alignment, opposition or conjunction?The role of knowledge in the governance of medicaland health policies, and the contribution of patientorganizationsMechanisms through which POs voice their concerns in health-policy makingThe ways POs promote their expertise capacity in health policy-making

5. Aims of the Survey To evaluate POs support to research: in what ways and to what extent To learn about POs experience of collaboration with researchers To collect POs opinion on priorities and obstacles for rare disease research

6. Survey population Questionnaire sent to 772 POs 309 responses from 29 European countries (178 member + 131 non member POs)= 40% response rate

7. General characteristicsof participating POsAge of the POsFinancial resourcesDiseases and clinical domains concernedExistence of internal Scientific Committees

8. Rare diseases POs: newly createdorganisations Number of years active 37% exist for 10 to 15 years 22% exist for less than 5 years

9. Membership 2/3 of (non umbrella) POs have less than 500 members Number of members Building its membership:100 a long-term process 80 44% of the POs 60 created before 1970 40 33% have more than 3000 21% members. 20 15% 13% 13% 6% 0 31% of the POs# POs created between 2000 50 9 0 9 9 9 -9 49 99 00 99 < 50 -2 >3 0- 0- and 2009 have 50 to 10 50 00 10 150 members.

10. High diversity in POs annual budgets 25 000 3 000 100 000 0 of POs have less of POs have more than 3 000 than 100 000 10% less than 300 5% more than 1 200 000 6% no budget

11. Diseases and clinical domains 110 diseases from various clinical domains (1.3 million patients specifically represented) Multisystemic Dermatology Neurology n=30 n=38 n=23Musculoskeletal Ophthalmology Metabolic n=22 n=12 n=13Neuromuscular Oncology Cardiovascular n=27 n=12 n=14 Haematology Others Umbrella n=10 n=59 n=15 15 Umbrella organisations from 10 countries (20 million patients represented)

12. Integration of external scientific competenceswithin the POs structure 56% of the POs have aDanemark 22 Scientific Committee (174 Sweden 36 out of 309) NL 44 A very common device Spain 46 within French POs Belgium 47 Greater proportion among older POs: 80% of the POs Ireland 50 created before 1980 vs. UK 59 60% after 1980 Italy 60 45% of the ScientificGermany 69 Committees contribute to the allocation of financial France 90 resources for research 0 20 40 60 80 100

13. POs support to Research 37 % of POs fund research but POs non-financial support to research, less visible, provides specific resources

14. Areas of research funded81 % Basic research57% Therapeutics56% Diagnosis54% Epidemiology / Natural history of the disease46% Human and Social Science24% Assistance technologies / Daily life19% Research infrastructures

15. Types of financial support(37% of the Pos)77% Initiating and financing a specific research project75% Co-financing the operating budget of a specific research project54% Financing the acquisition of a specific research equipment (centrifuge,computer, etc)47% Financing a fellowship for a young researcher39% Co-financing meetings of researchers / clinicians30% Co-financing training of researchers / clinicians

16. Financial support to research is linked to the POs budgets and age % of POs % of POs POs annual total funding Date of creation funding budget research researchBudget > 300.000 81% Before 1970 70%Budget between Between 1970 - 1979 61% 50% - 56%30.000 to 300.000 Between 1980-1989 47%Budget between 32% - 33%5000 to 30.000 Between 1990 -1999 35%Budget < 5000 11% -14% Between 2000-2009 30%

17. POs support to research Non-financial support to research76% Actions aiming at creating links between patients, researchers and physicians57% Helping to identify patients to participate in clinical trials49% Providing information and counseling for potential participants in clinical trials48% Defining research projects by highlighting patients needs and expectations45% Collaboration in clinical trials design30% Participation in scientific committees within institutions28% Launching campaigns for the collection of biological samples from patients Financial support to research: 37%

18. POs experience ofcollaborationwith the researchcommunity

19. POs experience of collaborationwith researchers Relationship with research 15 12 34 19 5 teams (Close or distant) NA Quality of research results ++ 22 13 38 71 (Encouraging or not) + - Information on research -- 15 16 33 13 7 results (Satisfying or poor) 0 20 40 60 80 100

20. Priorities and obstacles tothe development ofresearch

21. Advances observed by the POs indifferent research areas (5 last years) Major vs. important advances Basic research 15% vs. 27% Diagnosis 13% vs. 24% Minor advances Human and social sciences 40% Assistive technologies 38% Epidemiology 38%

22. Degree of priority that should be given when allocating public funds & research areas Therapeutics 49 Diagnosis 40 Basic research 35 Strong priority 44 Absolute priority Epidem iologyHum an and social sciences 43Assistive technologies 36 Infrastructures 36 0 10 20 30 40 50 60

23. Obstacles to the advance of research Lack of recognition of your disease 21 19 13 11 Lack of multidisciplinary research 18 25 15 12 Lack of coordination between specialists major 23 28 12 10 (researchers and clinicians) important minor Difficulties to identify patients 21 32 17 12 noneLow number of clinicians specialised in your 39 29 9 5 disease/s Low number of researchers working on 37 30 9 7 your disease/s 0% 20% 40% 60% 80% 100%

24. Conclusion POs efforts for creating collectives of researchers, clinicians & POs around the specific diseases they are concerned with appears as being for them a priority action in the support / development of research. POs support to research concern a large range of research areas (basic, therapeutic, social and human sciences). Although financial support to research is the more visible form of support, a large part of their involvement consist in activities providing non-financial support to research. POs have limited budgets, but rare disease research benefits from their specific resources: contacts and trust between members & their expertise on the diseases they are concerned with.