Welcome to the website of
the French Rare Disease Platform

The AFM-Téléthon is an organisation bringing together patients and relatives of patients affected by rare muscle diseases (often progessive, chronic and disabling diseases) most of which are genetic in origin. Thanks to the Telethon, a unique fundraising and awareness-raising event that brings together 3 million participants every 1st weekend in December, the AFM-Téléthon is a major player in rare disease research in France and around the world. It has set up its own laboratories which are at the forefront of innovative therapies for rare diseases (Genethon, I-Stem, Institut de Myologie) and supports more than 350 research programmes, and young researchers, every year. Around forty clinical trials are currently underway or in the preparatory stages thanks to investment from the Telethon, notably for rare diseases of the eyes, blood, brain, immune system, liver, muscle, etc.
The AFM-Téléthon also fights to ensure that the rights of patients are recognised and respected : the organisation encourages research into innovative solutions in all areas, from diagnosis to local support, and carries out advocacy work to defend access to innovative treatments as well as the introduction of public policies to step up research and improve the quality of life of thos living with rare diseases.

Alliance maladies rares, the French Rare Disease Alliance, is an umbrella organisation of 240 patient and parent organisations. Its main missions are to make sure that the voice of 3 million patients and their families are heard by public authorities, making rare diseases a national priority; to support, train and inform patient associations; and to raise awareness of rare diseases among healthcare professionals and the general public.

The organisation’s expertise has a direct impact on public health policies and encourages advances in clinical and scientific research.

EURORDIS Rare Diseases Europe is a unique non-profit alliance of over 1,000 rare disease patient organisations from 74 countries, working together to improve the lives of over 30 million people living with a rare disease in Europe. By connecting patients, their families and patient groups, bringing together all stakeholders and mobilising the rare disease community, EURORDIS strengthens the patient voice and shapes research, policy and patient services. Our vision is of a world where all people living with a rare disease can enjoy a longer and better life, and realise their full potential in a society that values their well-being and leaves no one behind. Our mission is to work across borders and diseases to improve the lives of all people affected by rare diseases

The French Rare Disease Foundation, Fondation Maladies Rares, was created in 2012 as part of the 2nd French National Plan for Rare Diseases. It is a scientific cooperation foundation dedicated to scientific research into rare diseases, and was founded by the main stakeholders in research and care in the field of rare diseases: the AFM-Téléthon, the Alliance Maladies Rares, the Institut National de la Santé et de la Recherche Médicale (Inserm), the Conférence des Présidents d'Université and the Conférence des Directeurs Généraux des CHU (University Hospitals).

The Foundation's mission is to accelerate research, facilitate the development of treatments and improve the lives of patients and their families in the field of rare diseases. It is dedicated to supporting innovative projects while encouraging the sharing and dissemination of knowledge on rare diseases.

The Maladies Rares Info Services (Rare Disease Information Services) organisation, established in November 2001, runs the service of the same name which responds to requests from patients, carers and professionals about rare diseases and the diagnostic process. It provides information and guidance (medical, social, associative, legal, etc.), as well as support services. This professional service, staffed by scientifically-trained support and information officers and supervised by an expert doctor, can be reached by telephone on 0 800 40 40 43 (toll-free number) or by using the contact form on its website.
The organisation is also responsible for the coordination and logistics of La Plateforme maladies rares (including the management of meeting rooms open to all those in the rare disease field).

Orphanet, the knowledge base on rare diseases and orphan drugs, was created in France by the Ministry of Health and INSERM (Institut national de la santé et de la recherche médicale) in 1997.

Orphanet is a unique, multilingual resource, gathering and improving knowledge on rare diseases, in order to facilitate and improve the diagnosis and care of people living with a rare disease in Europe and beyond. Orphanet provides high quality information on rare diseases and allows equal access to knowledge for all. Orphanet is also developing the Orphanet nomenclature for rare diseases (ORPHA code), essential for the visibility of rare diseases in health and research information systems.