France: Official number of cases per rare disease

The French National Database on Rare Diseases (BNDMR) has published for the first time the number of rare disease patients registered in the database by disease, covering more than 4 600 rare diseases. This information provides visibility to patients and will help promote research and development of new therapies.
The BNDMR uses the Orphanet nomenclature of rare diseases to code the patients in the database. In the Orphanet nomenclature each clinical entity is assigned a unique and stable identifier: the ORPHAcode. It is regularly updated through systematic surveillance of the scientific literature, and diseases may be added, rendered obsolete, or declared not rare in Europe according the the evolution of knowledge on the disease.
The publication of the BNDMR is available in two versions: a national report (PDF format) which describes the methodology used to obtain the results, and which provides the number of cases recorded in the NDRD, for each rare disease (and therefore each ORPHAcode); and an Excel file for research purposes, to allow data re-use. The data were extracted from the BNDMR data warehouse on March 1, 2022, and were processed on the basis of the Orphanet nomenclature published in July 2021.

(source: OrphaNews 21 June 2022)