Orphanet for rare disease patients: interview with Segolène Aymé

Rebecca Aris interviews Segolène Aymé


As our rare disease themed month draws to a close we interview Segolène Aymé, founder of Orphanet – a web portal dedicated to rare diseases and orphan drugs.

‘There is no disease so rare that it does not deserve attention’. This is the motto of Orphanet. Orphanet is the reference portal for information on rare diseases and orphan drugs, for all audiences. Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases.

Ségolène Aymé founded Orphanet in 1997 and here she shares the inspiration behind it and how it helps those in the rare disease community.

Interview Summary

RA: Segolène, thank you for agreeing to take part, could you start by explaining your background and what inspired you to set up Orphanet.

SA: I trained as a medical geneticist before the era of the Internet, which means that I had no source of information on the many syndromes affecting patients attending my clinic. It was a nightmare not to be able to offer a precise diagnosis and suggest proper management techniques. I immediately set up a computerized system to retrieve the syndromes described in the few books I could access. Then I had the new syndromes described in the medical literature. It became a database of syndromes, which helped me a lot to sort out cases. This was the ancestor of Orphanet in the late seventies. When the Internet arrived, it was like a dream to have the capacity to share my database with other colleagues and with patients. At the request of the French ministry of health, it was then enriched with data on expert clinics in 1997. Orphanet was born.


“Patients can find information on their diseases, even if extremely rare…”


RA: What are the objectives of Orphanet?

SA: The objective is to provide accurate information on all rare diseases, including clinical guidelines and a directory of expertise at world level. Currently, we are in 36 countries. This is a way to support equal access to appropriate management where ever people leave. We constantly develop new services pushed by our customers who are consulted once a year. We already contribute to better diagnosis and to increased collaboration between professionals. This is very rewarding.

RA: What difference has Orphanet made to patients with rare diseases?

SA: Patients can find information on their diseases, even if extremely rare, as we believe that there is no disease too rare to not deserve attention. Patients can train the professionals involved in their care and life. They are taken more seriously. Patients can find their own diagnosis using our support to diagnosis tool. They can identify the most appropriate clinic for them and have a view on the ongoing research for their disease. More importantly they can easily find a patient organisation to join or to consult.

RA: What challenges are associated with market access for rare diseases treatments?

SA: That is the most disturbing part of what happens: science is blooming, new treatments are developed for severe diseases and more and more health care systems are unable to cover the costs of these innovations. The only solution is to collaborate closely with Industry to ensure that the costs of development are as low as possible and the prices reasonable.

RA: How can we ensure that rare disease research and availability of orphan drugs becomes a priority in Europe?

SA: It was a priority in Europe until the economic crisis became evident. The public at large is with us. Because of a few black sheep, Industry has now an image of being a pure money-maker in the field of orphan drugs, which is not fair. We need to restore the confidence that Industry, whilst making profit, is dedicated to responding to unmet needs.


“Because of a few black sheep, Industry has now an image of being a pure money-maker in the field of orphan drugs, which is not fair.”


RA: How important are centres of expertise for rare diseases?

SA: They are pivotal for a smooth management process and for clinical research. Diseases are rare but experts are too. It is better to concentrate the expertise in a few centres in Europe to ensure progresses and to be in a position to develop clinical guidelines and training modules.

RA: What are the biggest challenges that you see for patients with rare diseases and how can pharma help overcome them?

SA: I don’t know if this is the biggest challenge for patients, but the biggest challenge in general where Industry can play a role is to build up a feed with data of disease registries. The technology is there. The patients are willing to participate. It is in the interest and even obligation of Industry to have post-marketing data. The idea would be to have private-public partnership respecting the rights and duties of each party. It is very much possible. Let’s do it…

RA: What changes would you like to see in the future in the rare disease space?

SA: I would like to see a greater participation of patients in clinical research. They are motivated. I think they would participate if the professionals were not so protective of their old habits.

RA: Thank you for your time




About the interviewee:

Ségolène Aymé is a medical geneticist, emeritus director of research at the French Institute of Health and Medical Research (INSERM). She was the founder of Orphanet in 1997 and its executive manager from 1997 up to 2011. Orphanet, www.orpha.net, is the web portal dedicated to rare diseases and orphan drugs which is currently funded by the French Ministry of Health, the INSERM and the European Commission as a Joint Action (DG Public Health).

She chairs the European Union Committee of Experts on Rare Diseases (EUCERD), and the WHO Topical Advisory Group for Rare Diseases, responsible for the revision of the International Classification of Diseases. She serves as editor-in-chief of the Orphanet Journal of Rare Diseases (www.ojrd.com).

How can we achieve a greater participation of patients in clinical research in the rare disease space?