The French national registry for rare diseases: an integrated model from care to epidemiology and research

Excerpt

The first national plan for rare diseases (2005-2008) set the network for care and research in the rare diseases (RD) field across all French hospitals. The 131 RD centers of expertise (CE) initiated then various IT projects to register electronically their RD patients. The CEMARA project [1] up to now registered 235,000 RD patients, from 62 RDCE (out of 131), 383 units of care and described over 4000 rare diseases. The identified limits of the CEMARA model were: i) data collection was not incorporated in the care setting, ii) exposed to data re-entry, iii) coping with data privacy new regulations and iv) gaining a wide national consensus on the data to collect for all RDs and from all CEs. To overcome these limits, the 2^nd national plan for rare diseases (2010-2014) promoted the creation of a national data repository for all rare diseases (BNDMR) based on the CEMARA model with the following objectives: i) identifying RD patients within the health information systems in care setting, ii) describing the RD demand of care, and the adequacy of the supply and iii) identifying patients eligible for clinical trials or cohorts. …