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Rare Congress 2017 / 5th Meeting of Rare Diseases (5th Rencontres #maladiesrares)

November 20, 2017 @ 08:00 - November 21, 2017 @ 17:00 UTC+0

Event Location:

City of Science and Industry 30 Corentin-Cariou avenue 75019 Paris 
Paris, France

Event Description:

Rare 2017  is the 5th edition of rare disease meetings which aims to promote in France a health and research policy for people with rare diseases.

Rare brings together all the actors: public decision-makers, representatives of patients, health and research professionals, drug manufacturers, medical devices and health technologies, all united by the conviction that the solutions to the multiple additional problems posed by the scarcity of diseases, can only be identified and especially implemented collectively.

These meetings, sponsored by the Rare Disease Foundation in partnership with Eurobiomed, will once again be a laboratory of ideas and analyzes to move towards a more equitable and efficient health system, more knowledge for health decision-making. , innovations serving unmet needs, and more quality of life for patients and their families.

Learn more at http://fondation-maladiesrares.org.

Featured Mapi Presentation:

Are patient-reported outcome measures (PROM) used in the evaluation of orphan drugs?

Catherine Acquadro1, Sally Lanar1, Isabelle Savre2, Benoit Arnould1

1Mapi, Patient-Centered Sciences, Lyon, France; 2Mapi Research Trust, Lyon, France

Corresponding author: Catherine Acquadro, MD, Head of Thought Leadership, Mapi, 27 rue de la Villette, 69003 Lyon, France. cacquadro@mapigroup.com


In its report published in February 2016, the IRDiRC concluded that the use of patient-reported outcome measures (PROM) is a necessity in clinical research on rare diseases because they measure the real benefits of the treatment from the patient's point of view. The objective of our study was to evaluate the extent to which PROM were used in the evaluation of orphan drugs authorized by the Food and Drug Administration (FDA) and the European Medicines Agency (EMA).


The website of the FDA and the EMA were reviewed to retrieve all products approved with an orphan designation from 01/2002 to 06/2017 included. The label (FDA) and the summary of product characteristics (EMA) of all products were analyzed to find any mention of PROM used and found relevant by the agencies.


The review shows that less than 20% of the products approved with an orphan drug designation include a PRO claim in their label. When PRO results are mentioned in the label, the measures are primarily focused on symptoms (e.g., fatigue, pain, dyspnea), rarely on functioning or health-related quality of life. In most cases the measures used are not specifically developed for the disease.


This review shows that the patient’s perspective in the evaluation of orphan drugs is not fully implemented. The high number of rare diseases, the small number of patients for each pathology, the lack of information on the natural history of certain diseases, or the association with significant disability and cognitive impairments, make the development of specific PROM an arduous task. One strategy to enhance the use of PROM in clinical research might be a wider use of measures of specific function. A systematic codification of existing instruments measuring function, based on widely recognized categorizations such as ICF and Orphanet indexing, could be of great value to support cost-effective patient-centered clinical research in rare diseases.

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November 20, 2017 @ 08:00
November 21, 2017 @ 17:00
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