Characterizing new patient types with spinal muscular atrophy treated with SMN therapies
Characterization of New Phenotypes of Patients With Spinal Muscular Atrophy Treated With SMN Restoring Therapy
This study is trying to understand how different types of spinal muscular atrophy in children under 16 respond to new treatments that boost SMN protein levels, while also looking at their muscle strength, thinking skills, and heart health over two years.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 60 (estimated) |
| Ages | 0 Years to 16 Years |
| Sex | All |
| Sponsor | Hospices Civils de Lyon Academic / other |
| Locations | 8 sites (Bron, Rhone and 7 other locations) |
| Trial ID | NCT06321965 on ClinicalTrials.gov |
What this trial studies
This study aims to characterize new phenotypes of patients with spinal muscular atrophy (SMA) who are being treated with therapies that restore SMN protein expression, such as nusinersen, risdiplam, and onasemnogene abeparvovec. It will involve prospectively following children under 16 years old with genetically confirmed SMA for two years, evaluating their muscle function, cognitive abilities, and cardiac health. Additionally, the study will assess the relevance of various assessment tools for monitoring this population and collect data on the economic impact of SMA treatment in France.
Who should consider this trial
Good fit: Ideal candidates are children aged 0 to 15 years with genetically confirmed SMA who are receiving SMN restoring therapies.
Not a fit: Patients with other significant neurological diseases or conditions that interfere with SMA assessment may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of SMA and improve treatment strategies for affected children.
How similar studies have performed: Other studies have shown success in characterizing SMA phenotypes and evaluating treatment impacts, making this approach both relevant and timely.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Genetically confirmed infantile or juvenile spinal muscular atrophy * Treated with a therapy that restores SMN protein expression (e.g. nusinersen, risdiplam, onasemnogene abeparvovec) * Aged 0 to 15 years inclusive * Informed consent signed by both parent(s)/legal guardian(s) and patient's assent * Affiliated or beneficiary of a health insurance plan\*. \* for inclusion in France Exclusion Criteria: * Other condition likely to interfere significantly with ASI assessment and clearly unrelated to the disease * Other associated neurological disease * Current pregnancy or breast-feeding (a pregnancy test will also be performed at inclusion). Please note that patients with a specific contraindication to MRI (i.e. metallic foreign body, claustrophobia and other reasons determined by the investigators) will be allowed to participate in the study, but MRI will not be performed.
Where this trial is running
Bron, Rhone and 7 other locations
- Pediatric Rehabilitation Service - L'Escale Mother and Child Hospital — Bron, Rhone, France (Recruiting)
- CHRU of Brest — Brest, France (Not_yet_recruiting)
- Pediatric Neurology and Resuscitation Raymond-Poincare Hospital — Garche, France (Not_yet_recruiting)
- Pediatric Neurology Swynghedauw Hospital — Lille, France (Not_yet_recruiting)
- Marseille University Hospital - Timone Hospital Department of Pediatric Neurology - Specialized Pediatrics and Child Medicine — Marseille, France (Not_yet_recruiting)
- I-Motion Pediatric Clinical Trial Platform Armand Trousseau Hospital — Paris, France (Not_yet_recruiting)
- Hautepierre Hospital - Mother and Child Hospital — Strasbourg, France (Not_yet_recruiting)
- Department of Pediatrics - Neurology and Infectious Diseases Toulouse University Hospital - Children's Hospital — Toulouse, France (Not_yet_recruiting)
Study contacts
- Study coordinator: Laure LE GOFF, PI
- Email: laure.le-goff@chu-lyon.fr
- Phone: 04.72.12.95.04
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.