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Last week, our Executive Director Flóra Raffai travelled to Rome, Italy for the SSIEM 2016 symposium. In this blog, she shares the main themes that arose from her panel on patient empowerment.

I was invited to join a panel at the Society for the Study of Inborn Errors of Metabolism’s (SSIEM) annual symposium in Rome, Italy. The purpose of the panel was to discuss the value of patient empowerment. The symposium itself was aimed at clinicians and researchers from around the world, sharing their latest innovations and research results. It was fascinating to hear the many new therapies being developed for this subset of rare diseases, it gave me great hope for the future that we can achieve a world in which all rare diseases have an effective treatment. Indeed, Dr Muntau from Germany shared that we have already developed 195 new rare disease treatments, very close to the 200 target IRDiRC set to be achieved by 2020. At this rate, we may develop closer to 300 by the time the deadline comes around.

Among these highly scientific presentations, Climb decided to host a panel discussing the value of engaging patients and patient organisations in research. Participating in the session were Lindsay Weaver, Executive Director of Climb; myself, Executive Director of Findacure; Tihana Kreso, RareConnect Community Manager; and Jasmin Barman Aksoezen, Porphyria molecular biologist and patient. Throughout the session, a major theme arose around the idea that patient involvement in research should not be tokenistic; patients should be included in the research process from the start, instead of brought in ad hoc for comments. Jasmin shared a case study in erythropoietic porphyria (EPP), where research outcome markers were completely at odds with actual patient experience. For example, the quality of life survey used for EPP was actually developed for another skin condition with little overlap in experience. Jasmin, along with other patients and EPP experts, helped to rewrite the survey to include relevant questions, which truly reflected the experiences of EPP patients. This in turn helped to prove a trialled treatment was effective and led to regulatory approval.

Patient groups were also recognised as fundamental in helping patients overcome isolation. Lindsay outlined how providing reliable information upon diagnosis can be a lifeline for patients and their families, a role often take on by patient groups. Tihana shared the important role patient groups play in creating global communities through RareConnect, indeed, over 20,000 people have been brought together across 86 rare diseases.

Similar to Jasmin’s EPP case study, I shared several examples of patient groups Findacure has worked, and how they have helped improve research and direct it according to patient priorities. From providing targeted funding, to improving understanding of natural histories, to creating research collaborations and disseminating results, patient groups can help overcome many of the main barriers to rare disease research.

It was refreshing to have a session dedicated to involving the patient voice at such an exceedingly scientific event. Hopefully the audience will go forward to create ever more clinical-patient partnerships and find even more treatments for rare diseases.


Patient engagement is not all it may SSIEM

by Guest Contributer time to read: 2 min