Findacure workshop: “How rare disease patient groups can work with researchers”

Although collectively, rare diseases affect an estimated 6 to 8 per cent of the EU population (EURORDIS), the low prevalence of individual rare diseases means they have historically received little attention from government or industry research funders (Forman et al., 2012; Litterman et al., 2014). In the absence of these resources, support from rare disease patient groups is crucial for the initiation and progress of biomedical research. The benefits of rare disease patient groups working with researchers, the different ways patient groups can support research and how to establish partnerships were the themes of last week’s Findacure workshop in London.

  • Flora Raffai from Findacure started the workshop by introducing Findacure and their mission of empowering patient groups and promoting collaboration.
  • Dr Sara Ellis from the AMRC presented the talk ‘Peer review matters: Using peer review to invest in health and medical research with the greatest chance of having an impact’, Dr Ellis started by showing that AMRC member charities, several of them rare disease charities, fund over a third of all publically funded medical research in the UK. To decide what research to fund, AMRC members use peer review to decide if a research project is valuable. In peer review, the research proposal is evaluated by people with similar interests and expertise to those who wrote the project proposal and the reviewers can be not only researchers but also other professionals, patients, patient groups or members of the public. In the involvement of patients and patient groups, it was emphasised that expertise does not necessarily mean academics and that patients/patient groups are often involved in peer review as experts in their own condition. In the second part of her talk Dr Ellis mentioned the importance of charities having a comprehensive research strategy where is clear what are their priorities and the research they wish to fund.
  • Heather Band from the Batten Disease Family Association (BDFA) talked about the different research projects, PhD studentships and research equipment they have been able to fund and the importance of communicating with researchers and of continuity of funding. The BDFA joined with other organisations to create a patient registry, a powerful tool that shows how patients’ groups and researchers can work together. In addition, the BDFA provides mechanisms for individual families to directly fund research. Another good example of bringing patients, patient groups and researchers together mentioned was their Lab Open day where patients and funders meet the researchers and get to see first-hand the progress of a project and interact with researchers.
  • Professor David White from the Cavernoma Alliance UK presented the talk ‘Setting a research agenda with the James Lind Alliance Priority Setting Partnership (PSP)’ explaining how creating a partnership of patients, representatives of patient support organisations, carers and clinicians they have determined, having started with over 2000 uncertainties, the 10 most important questions for research into the rare disease cavernoma. The PSP was published and promoted to researchers and research funders.
  • Dr Jutta Roth from the Oxford Rare Disease Initiative presented the talk ‘New ways for patient organisations to get involved’ explaining how the initiative brings together rare disease stakeholders such as researchers, patient organisations, industry and funders to advance the development of new therapies for patients. Dr Jutta gave examples of patient organisations driven collaborations and of how important is it for patient organisations to participate in meetings with researchers and receive research updates.

There is a global growing interest in strengthening rare disease patient organisations engagement in research (Montserrat et al., 2013; Forsythe et al., 2014). Studies based in the US (Landy et al., 2012), the EU (EURORDIS, 2012) and Australia (Pinto et al., 2016) have characterized patient organisations participation and impact in clinical research. Patient groups are experts in the disease, know the expert clinicians, the researchers and, more importantly, the patients. They can help establish priorities in the field and setting research strategies, design more accessible and suitable clinical trials, mobilise patients and motivate researchers. Collaborations benefit the patient groups as there is a focus on their disease, increasing awareness and knowledge and the researchers by motivating them and reminding them why research matters.

  • Forman, J., Taruscio, D., Llera, V. A., Barrera, L. A., Coté, T. R., Edfjäll, C., … Henter, J. I. (2012). The need for worldwide policy and action plans for rare diseases. Acta Paediatrica, International Journal of Paediatrics.
  • Forsythe, L. P., Szydlowski, V., Murad, M. H., Ip, S., Wang, Z., Elraiyah, T. A., … Hickam, D. H. (2014). A systematic review of approaches for engaging patients for research on rare diseases. Journal of General Internal Medicine.
  • Landy, D. C., Brinich, M. a., Colten, M. E., Horn, E. J., Terry, S. F., & Sharp, R. R. (2012). How disease advocacy organizations participate in clinical research: a survey of genetic organizations. Genetics in Medicine
  • Litterman, N. K., Rhee, M., Swinney, D. C., & Ekins, S. (2014). Collaboration for rare disease drug discovery research.
  • Montserrat Moliner, A., & Waligora, J. (2013). The European union policy in the field of rare diseases. Public Health Genomics, 16(6), 268–277.
  • Pinto, D., Martin, D., & Chenhall, R. (2016). The involvement of patient organisations in rare disease research: a mixed methods study in Australia. Orphanet Journal of Rare Diseases, 11, 2.

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