ESPE Abstracts (2016) 86 P-P2-703

French National Healthcare Network for Rare Endocrine Diseases (FIRENDO): The First Year of Activity to Monitor Patients with Rare Endocrine Diseases

Maria Givonya, Fanny Minimea,d, Euma Fortes Lopesa,e, Yvonne Varillona,k, Delphine Le Vergera, Sabine Ghenima,g, Marion Provosta,h, Haïfa Rahabi-Layachia,i, Claire Bouvattiera,f, Michel Polaka,j, Thierry Bruea,i, Marie-Laure Nunesa,h, Brigitte Delemera,g, Irène Netchinea,c, Pierre Mouriquanda,f, Françoise Borson-Chazota,k, Hélène Bony-Trifunovica,e, Patrice Rodiena,d, Leger Julianea,c & Jérôme Bertherata,b


aFIRENDO: Filière Santé Maladies Rares Endocrines, Paris, France; bCRMRS: Centre de référence Maladies Rares de la Surrénale, Paris, France; cCRMERC: Centre de référence Maladies Rares de la Croissance, Paris, France; dCR RH: Centre de Référence Pathologies de la Réceptivité hormonale, Angers, France; eCHU d’Amiens: Centre de compétence maladies rares endocriniennes, Amiens, France; fCNMR DSD: Centre de Référence Médico-chirurgical des anomalies du développement sexuel, Lyon, France; gCHU de Reims: Centre de compétence maladies rares endocriniennes, Reims, France; hCHU de Bordeaux: Centre de compétence maladies rares endocriniennes, Bordeaux, France; iCR DEFHY: Centre de référence Maladies rares d’origine hypophysaire, Marseille, France; jCR PGR: Pathologies gynécologiques rares, Paris, France; kHospices civils de Lyon: Centre de compétence maladies rares endocriniennes, Lyon, France


Background: Twenty-three national healthcare networks for rare diseases were identified in 2014 as part of the French scheme on rare diseases. The rare endocrine disease national healthcare network FIRENDO (www.firendo.fr) includes six centers of reference with complementary fields of expertise certified between 2005 and 2006, 30 centers of competence covering all French regions, 18 research and 37 diagnostic laboratories, 5 national learned societies and 13 patient advocacy groups.

Objective and hypotheses: FIRENDO aims at promoting care and research in rare endocrine diseases and also provides epidemiological data on patients with rare endocrine diseases.

Method: FIRENDO shortlisted 120 rare endocrine disorders, for which surveillance was instituted with a network of clinical research associates located in seven key clinical centers, one in each region of France. Under the impulse of FIRENDO Database management taskforce, data collection procedure has been unified nation-wide. Data are collected using the CEMARA national database developed for rare diseases.

Results: From September 2015 to March 2016 each of the seven regions started progressively to register in and out-patients with rare endocrine diseases. Up to now a total of 43 departments of adult or paediatric endocrinology units participate in the surveillance protocol. In 6 months a total of 6791 patients were registered. Analysis of the data will be performed annually and the first results will be presented at the meeting.

Conclusion: The epidemiology of rare diseases is considered crucial to define a consistent healthcare and medical research scheme in France. However, these data are alarmingly lacking for some rare endocrine disorders. FIRENDO should be able to build up a solid epidemiological tool to screen these populations, providing more accurate data in years to come.

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