Registry of Patients with Spinal Muscular Atrophy in France

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• CuidAME: Spain's longitudinal registry for spinal muscular atrophy

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  Recruiting Fundació Sant Joan de Déu · Esplugues de Llobregat · NCT07231549

• Apitegromab for infants under 2 with spinal muscular atrophy

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.