Rare disease centres were created under the impetus of France’s first national rare disease plan (PNMR1) and are based within hospitals. They provide care and treatment for patients suffering from rare diseases. 

Reference centres on rare diseases (CRMR)

The reference centres include highly specialised, multi-disciplinary teams (physicians, psychologists, dieticians, etc.) whose clinical and scientific expertise with a rare disease or set of rare diseases is recognised by the French Ministry of Health. They may be located in a single hospital (single-site reference centre) or in several hospitals. In the latter case, it is called a multi-site reference centre with a coordinating site and one or more member sites..

The reference centres have several missions:

  • Care and follow-up of patients with rare diseases
  • Expertise and consulting
  • Research
  • Teaching and training.

Competence centres on rare diseases (CCMR)

Competence centres are identified by the reference centres. On the regional level, they contribute to all of the reference centre’s missions. In particular, they ensure the proper care and follow-up of patients with rare diseases, close to patients’ homes.


FIMATHO coordinates 13 reference centres (including four coordinating centres and nine member centres), specialised in the care and treatment of rare abdominal and thoracic diseases and malformations, as well as 95 competence centres.

Rare Digestive Diseases reference centre

Pr. Jean-Pierre Hugot
Pr. Jean-Pierre HugotRobert Debré Hospital AP-HP (coordinator)
Pr. Olivier Goulet
Pr. Olivier GouletNecker Enfants Malades Hospital AP-HP
Pr. Francisca Joly
Pr. Francisca JolyBeaujon Hospital AP-HP
Pr. Alexandre Fabre
Pr. Alexandre FabreTimone Hospital AP-HM
Pr. Emmanuel Mas
Pr. Emmanuel MasHôpital des Enfants CHU of Toulouse
Dr. Dominique Guimber
Dr. Dominique GuimberJeanne de Flandre Hospital CHU of Lille
Dr. Alain Dabadie
Dr. Alain DabadieHôpital Sud CHU of Rennes
Pr. Noel Peretti
Pr. Noel PerettiHôpital Femme Mère Enfant HCL Lyon

Diaphragmatic Hernias reference centre

Pr. Laurent Storme
Pr. Laurent StormeJeanne de Flandre Hospital CHU of Lille (coordinator)
Pr. Alexandra Benachi
Pr. Alexandra BenachiAntoine Béclère Hospital AP-HP
Dr. Nicoleta Panait
Dr. Nicoleta PanaitTimone Hospital AP-HM

Chronic and Malformative Diseases and Disorders of the Oesophagus reference centre

Pr. Frédéric Gottrand
Pr. Frédéric GottrandJeanne de Flandres Hospital CHU of Lille

Pancreatic rare diseases reference centre

Pr. Vinciane Rebours
Pr. Vinciane ReboursBeaujon Hospital AP-HP