Duchenne muscular dystrophy: the French Dystrophinopathies Registry (DYS Registry)

The French Dystrophinopathies Registry (DYS Registry) addresses the specific need for a clinical database of neuromuscular diseases (NMDs). It sponsored the joint development of a portal that would be common to allNMDs. The NMD portal and the first database pilot, the DYS Registry, were launched into production inMarch 2019. A total of 459 items have been thoroughly validated by the board of experts and the COPIL, enabling completion of the following categories: (1) early symptoms and diagnostic assessments; (2) genetic diagnosis; (3)muscle biopsy studies; (4) clinical assessments including motor functional measures (6-Minute Walk Test, Motor Function Measure [MFM], North Star Ambulatory Assessment [NSAA]), cognitive function and neuropsychological events, cardiac function and respiratory function; (5) follow-up including general clinical data, functional measures (motor, respiratory, and cardiac), ventilatory support, cardiac therapy, orthopedic surgery; (6) muscle biopsy or fibroblast samples; (7) inclusion in clinical trials.