Registry of Patients with Spinal Muscular Atrophy in France
French Register of Patients With Spinal Muscular Atrophy
This study is collecting health information from people with spinal muscular atrophy in France to see how different treatments affect their survival and overall well-being.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Ages | 0 Days and up |
| Sex | All |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Locations | 1 site (Garches) |
| Trial ID | NCT04177134 on ClinicalTrials.gov |
What this trial studies
This observational study aims to collect and analyze clinical data on patients with spinal muscular atrophy (SMA) types 1 through 4 in France from September 2016 to August 2024. It will gather both retrospective and prospective data on patient survival, motor and respiratory functions, treatment tolerability, and overall health outcomes under real-life conditions. The study will also evaluate the impact of various medical interventions and treatments on the progression of the disease, as well as document demographic and clinical characteristics of the patient population.
Who should consider this trial
Good fit: Ideal candidates include genetically confirmed SMA 5q patients treated in reference centers in France during the study period.
Not a fit: Patients with other types of SMA or those unable to understand the French language may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the long-term outcomes and effective treatment strategies for patients with spinal muscular atrophy.
How similar studies have performed: Other studies have shown success in collecting longitudinal data for SMA, but this specific registry approach is novel in its comprehensive scope.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Garches
- Unité neuromusculaire, Service de Neurologie et Réanimation Pédiatrique, (French neuromuscular reference network (FILNEMUS), Hôpital Raymond Poincaré, — Garches, France (Recruiting)
Study contacts
- Principal investigator: Susana Quijano-Roy, MD, PhD — Unité neuromusculaire, Service de Neurologie et Réanimation Pédiatrique, Hôpital Raymond Poincaré, 92380 Garches, FRANCE
- Study coordinator: Susana Quijano-Roy, MD, PhD
- Email: susana.quijano-roy@aphp.fr
- Phone: +33147107890
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.