Characterization of New Phenotypes of Patients With Spinal Muscular Atrophy Treated With SMN Restoring Therapy

Recruiting now · Not applicable

Conditions studied: Spinal Muscular Atrophy

In brief

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.

Key facts

Study ID

NCT06321965

Run by

Hospices Civils de Lyon

People needed

60

Starts

2024-07-24

Expected to finish

2029-01-24

Last updated by the study team

2026-01-30

Who can join

Age: any, up to 16. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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 it is running

• Pediatric Rehabilitation Service - L'Escale Mother and Child Hospital — Bron, Rhone, France (enrolling)
• CHRU of Brest — Brest, France
• Pediatric Neurology and Resuscitation Raymond-Poincare Hospital — Garche, France
• Pediatric Neurology Swynghedauw Hospital — Lille, France
• Marseille University Hospital - Timone Hospital Department of Pediatric Neurology - Specialized Pediatrics and Child Medicine — Marseille, France
• I-Motion Pediatric Clinical Trial Platform Armand Trousseau Hospital — Paris, France
• Hautepierre Hospital - Mother and Child Hospital — Strasbourg, France
• Department of Pediatrics - Neurology and Infectious Diseases Toulouse University Hospital - Children's Hospital — Toulouse, France

Full record on ClinicalTrials.gov

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