Characterization of New Phenotypes of Patients With Spinal Muscular Atrophy Treated With SMN Restoring Therapy
Key facts
- Where
- Brest, Bron, Garche, Lille, Marseille, Paris, Strasbourg, and Toulouse, FranceSee the 8 sites
Could this be for you?
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 0 and 16 years old?
Source: NCT06321965, who can take part
Where in France
- CHRU of BrestBrest, FranceNot yet recruiting
- Pediatric Rehabilitation Service - L'Escale Mother and Child HospitalBron, FranceTaking people
- Pediatric Neurology and Resuscitation Raymond-Poincare HospitalGarche, FranceNot yet recruiting
- Pediatric Neurology Swynghedauw HospitalLille, FranceNot yet recruiting
- Marseille University Hospital - Timone Hospital Department of Pediatric Neurology - Specialized Pediatrics and Child MedicineMarseille, FranceNot yet recruiting
- I-Motion Pediatric Clinical Trial Platform Armand Trousseau HospitalParis, FranceNot yet recruiting
- Hautepierre Hospital - Mother and Child HospitalStrasbourg, FranceNot yet recruiting
- Department of Pediatrics - Neurology and Infectious Diseases Toulouse University Hospital - Children's HospitalToulouse, FranceNot yet recruiting
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
- Hospices Civils de Lyon
- Trial code
- NCT06321965
- Record updated
- 30 January 2026
- Original description
With the advent of new treatments for ASI, new phenotypes are emerging. The investigators propose to describe these new phenotypes by prospectively following children with ASI of all types treated with TRS and aged under 16 for 2 years.Read full original descriptionShow less
With the advent of new treatments for ASI, new phenotypes are emerging. The investigators propose to describe these new phenotypes by prospectively following children with ASI of all types treated with TRS and aged under 16 for 2 years.
The investigators also propose to evaluate potential assessment tools to determine whether they are relevant for monitoring this population, either routinely or for future clinical trials. The investigators also aim to collect the total costs associated with ASI in order to propose a first prospective medico-economic study in France.
Inclusion: 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: 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.