French Register of Patients With Spinal Muscular Atrophy
Trial Parameters
Brief Summary
The primary objectives of the study are to obtain clinically meaningful data on survival and outcomes of all the patients with spinal muscular atrophy (SMA) 5q types 1 through 4 (according to international classification), being followed in the reference centers of the disease in France between September 1, 2016 and August 31, 2024. The registry will collect retrospectively and prospectively the longitudinal data of the long-term follow-up for child and adult patients, under real life conditions of current medical practice, in order to document the clinical evolution of patients (survival, motor, respiratory, orthopedic and nutritional), the conditions of use of the treatments, the mortality rates of treated and untreated patients, the tolerance of the treatments, adverse events in order to better define their places in the therapeutic strategy.
Eligibility Criteria
Inclusion Criteria: * Genetically confirmed SMA 5q patients through 1 to 4 types treated in reference centers in France between September 1, 2016 and August 31, 2024. * for prospective study: inform consent form signed by patient. * for retrospective data: information form with non-opposition have been given to participant. * Covered by a health insurance. Exclusion Criteria: * Other type of SMA (not 5q). * Under guardianship or curatorship. * Unable to understand french language.