NCT06321965 Characterization of New Phenotypes of Patients With Spinal Muscular Atrophy Treated With SMN Restoring Therapy
| NCT ID | NCT06321965 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Hospices Civils de Lyon |
| Condition | Spinal Muscular Atrophy |
| Study Type | INTERVENTIONAL |
| Enrollment | 60 participants |
| Start Date | 2024-07-24 |
| Primary Completion | 2029-01-24 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.
This trial targets 60 participants in total. It began in 2024-07-24 with a primary completion date of 2029-01-24.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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.
Eligibility 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.
Contact & Investigator
Frequently Asked Questions
Who can join the NCT06321965 clinical trial?
This trial is open to participants of all sexes, aged 0 Years or older, up to 16 Years, studying Spinal Muscular Atrophy. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06321965 currently recruiting?
Yes, NCT06321965 is actively recruiting participants. Contact the research team at laure.le-goff@chu-lyon.fr for enrollment information.
Where is the NCT06321965 trial being conducted?
This trial is being conducted at Bron, France, Brest, France, Garche, France, Lille, France and 4 additional locations.
Who is sponsoring the NCT06321965 clinical trial?
NCT06321965 is sponsored by Hospices Civils de Lyon. The trial plans to enroll 60 participants.