Ségolène Aymé is a medical geneticist, founder of Orphanet. She has played an important role in the last years chairing the Topical Advisory Group on rare diseases at the World Health Organization, chairing the European Union Committee of Experts on Rare Diseases but also as Coordinator of the scientific secretariat of the International Rare Diseases Research Consortium (IRDiRC) and member of the Scientific Advisory Board of RD-Connect.
1- What are the key latest developments in the Rare Diseases field?
The fact that the patients’ point of view is now recognised as being central in the added value of therapies is a key development. As a matter of fact, biomarkers are no longer considered as the only factor in the assessment the efficacy of innovative therapies, the added value from the patient perspective also has to be demonstrated. And this does not mean only asking patients for their views on their treatment from a quality of life perspective, but also that a qualitative approach is key to identify criteria in terms of patient symptoms, functioning, and of the impact of the disease, all of which are essential to conceptualize treatment benefit from their view point.
2- Which role can Patient Organisations play in this field?
Patient organisations should use the outcomes of such a qualitative approach and highlight what are the most important points from their own perspective. There is also a need for greater awareness among healthcare professionals, and patient organisations should organise scientific meetings with Clinicians. It is very important. They also have to raise awareness among patient communities on the importance of their input in the follow up of their disease and the development of their treatment. In clinical trials, there is a gradual shift between phase 1 to 4, and the view is steadily gaining ground that protocols have to include the patient perspective. The same applies to registries that have to be built and developed so that patients can incorporate their natural data out of their personal condition’s history, following validated procedures.
3- In your opinion, what remains to be done in terms of rare diseases treatment?
Science is currently very productive, and we have good ground to hope that further innovations will come and make a difference in the life of patients living with rare conditions. But at present, the questions of costs are prominent and at the centre of all debates. The worst scenario would be that existing therapies are not made available to patients. So a major issue is to decrease development costs: efforts have to be made to share non-competitive aspects (opening of databases), it is certainly possible to increase the sharing of date between industry, patients and academics and increase the transparency of the cost structure of medicinal products. And of course always demonstrate the true added value of medicines to make their costs socially acceptable.
To learn more: “Patient-Centered Outcome Measures”