The expertise of researchers, the existence of centres of reference and the availability of national and international cohorts are enabling research into the consequences of rare diseases to be developed.
– Rare bone diseases: update of epidemiological data in France on constitutional bone diseases and rare calcium and phosphate metabolism diseases (X-linked hypophosphatemia, osteogenesis imperfecta): assessment of incidence and prevalence, effectiveness of care pathways, based on data from the BNDMR (national data bank on rare diseases). Data from the BNDMR will be matched with data from the SNDS and the European cohort of rare bone diseases. We are also launching a new cohort of patients with adult hypophosphatasia in order to characterise the phenotype of this disease and assess its natural history. This will be the first cohort to focus on the characteristics of the disease in adults.
– Gaucher disease registry:. The aim of this registry is to carry out epidemiological analyses of the population of patients with Gaucher disease in France, in order to understand the different management practices, to carry out analyses in terms of the characteristics of the disease, and to provide a tool for research work. Analysis of this register will be used in a number of studies designed to analyse the predictive and prognostic factors of bone damage. The real-life efficacy of different treatments (enzyme replacement therapy or substrate reduction) will be studied.
