French Register Following Patients With Spinal Muscular Atrophy Over Time
Records long-term health and treatment outcomes of people with spinal muscular atrophy in France.
Plain-language title generated from the registry record
Registry title: French Register of Patients With Spinal Muscular Atrophy
Key facts
- Where
- Garches, FranceSee the site
Where in France
- Unité neuromusculaire, Service de Neurologie et Réanimation Pédiatrique, (French neuromuscular reference network (FILNEMUS), Hôpital Raymond Poincaré,Garches, FranceTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Assistance Publique - Hôpitaux de Paris
- Trial code
- NCT04177134
- Record updated
- 6 April 2025
- Original description
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.Read full original descriptionShow less
French Register of Patients With Spinal Muscular Atrophy
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.
Inclusion: 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: Other type of SMA (not 5q); Under guardianship or curatorship; Unable to understand french language.