Latest database descriptions

The main objective is to identify in a large cohort of PCD patients, early predictors of severity in order to improve personalized patient management.

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.

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.

The main objective of this study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile.