The French Gaucher disease registry FRESH-PEF56-en Nadia BELMATOUG The French Gaucher disease registry FGDR FRESH-PEF56-en 56 FRESH-PEF56 Nadia BELMATOUG Jérôme STIRNEMANN ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (AP-HP) Epidemiology France Portal (PEF) ASSOC VAINCRE LES MALADIES LYSOSOMALES (VML) INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM) SANTE PUBLIQUE FRANCE null Nadia;BELMATOUG Jérôme;STIRNEMANN pharmacoeconomics Hematology Internal medicine Rheumatology Sphingolipidosis Biological determinants: Genetic predisposition Biological determinants - Carry out a descriptive epidemiological analysis of the population suffering from Gaucher's disease in France (prevalence estimated at 1/100,000) which makes it possible to describe the natural history of the disease, apprehend and analyze the care practices, and evaluate them. - Develop lines of research: * Epidemiology and modeling of the change in biological and clinical markers with and without treatment * Pregnancy and Gaucher's disease * Parkinson's disease and Gaucher's disease * Monoclonal peak and Gaucher's disease * Type-3 Gaucher's disease * Gaucher's disease in children - Evaluate the efficacy and the tolerance of the treatments, optimize them and carry out pharmacoeconomic studies - Establish any genotype-phenotype relations - Detect predictive factors of complications and identify the biomarkers making it possible to follow the disease with and without treatment - Select the patients for new therapeutic options null France Individuals Patients population Male Female Infant, Newborn (birth to 28 days) Infant (28 days to 2 years) Child, Preschool (2 to 5 years) Child (6 to 12 years) Young Adult (19 to 24 years) Adult (25 to 44 years) Middle Aged (45 to 64 years) Aged (65 to 79 years) Aged, 80 and over (80 years and more) All of the patients diagnosed and/or followed for Gaucher's disease over all of France. Gaucher's disease is confirmed by the dosage of the enzyme activity of the glucocerebrosidase. Clinical data Biological data Socio-demographic data Paraclinical data (non-biological) : Imaging Health event/morbidity Health event/mortality Health care consumption and services Other [500-1000[ individuals Other Observational Study Observational Study Morbidity registry 560 (31/01/2011) Unknown Restricted access Access subject to authorization from the scientific board of the registry, formed by the members of the Evaluation Committee of the Treatment for Gaucher's disease Access on specific project only