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The catalog contains the description of the main databases in public health in France
Latest database descriptions
Primary Ciliary Dyskinesia: Identification of specific severity criteria and phenotype-genotype correlation study
December 03 2024
The main objective is to identify in a large cohort of PCD patients, early predictors of severity in order to improve personalized patient management.
RaDiCo-MPS - Mucopolysaccharidosis patients in France in the era of specific therapeutics
December 03 2024
The primary objective of the RaDiCo-MPS cohort is to characterize the epidemiology and natural history of MPS diseases by building a retrospective and prospective collection of extensive phenotypic data from French MPS patients.
RaDiCo-COLPAC - National Cohort on the Epidemiology, Clinical and Genetic Heterogeneity of "Low PhospholipidâAssociated Cholelithiasis" (LPAC) Syndrome
December 03 2024
The main objective is to describe the different clinical, biological and radiological manifestations of LPAC syndrome defined according to current diagnostic criteria or according to extended criteria to any recurrent symptomatic gallstone disease and to delineate the different possible evolutions.
National cohort on imprinting disorders and their metabolic consequences
December 03 2024
The main objective of this study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile.
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