Actively Recruiting
Characterization of New Phenotypes of Patients With Spinal Muscular Atrophy Treated With SMN Restoring Therapy
Led by Hospices Civils de Lyon · Updated on 2026-01-30
60
Participants Needed
8
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying children under 16 years old with spinal muscular atrophy (SMA) who are treated with therapies that restore SMN protein, such as nusinersen, risdiplam, or onasemnogene abeparvovec. The goal is to describe new types of SMA in these treated patients over two years, evaluate tools used to monitor the disease, and collect information on the overall costs associated with SMA in France. Participants receive SMN restoring therapies and are followed for two years with regular assessments every six months. These evaluations include muscle function tests, cognitive assessments, cardiac checks, MRI scans (when possible), fatigue and activity monitoring, bulbar function tests, body composition and metabolism measurements, questionnaires on quality of life, and optional blood and cerebrospinal fluid sample collections. The study tracks disease progression at muscular, cognitive, orthopedic, respiratory, metabolic, cardiac, and bulbar levels. During the study, participants undergo various tests and questionnaires at multiple time points from the start up to 24 months. These include muscle strength measurements, developmental and behavioral assessments, heart exams, body scans, fatigue monitoring, swallowing evaluations, and quality of life surveys. Optional biological samples are collected periodically. The study carefully records disease markers and functional changes while monitoring participants' wellbeing and impact on families throughout the two-year period.
CONDITIONS
Brief Title
Characterization of New Phenotypes of Patients With Spinal Muscular Atrophy Treated With SMN Restoring Therapy
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Genetically confirmed infantile or juvenile spinal muscular atrophy
- Treated with a therapy that restores SMN protein expression (e.g. nusinersen, risdiplam, onasemnogene abeparvovec, or other)
- 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 will not qualify if you...
- Presence of another condition likely to interfere significantly with SMA assessment and unrelated to the disease
- Other associated neurological disease
- Current pregnancy or breastfeeding (pregnancy test performed at inclusion)
- Specific contraindications to MRI will not exclude participation but MRI will not be performed (e.g. metallic foreign body, claustrophobia)
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 24 months
Participants receive SMN restoring therapy and undergo various evaluations to characterize new phenotypes of spinal muscular atrophy.
Visits at Day 0, Month 1, Month 6, Month 12, Month 18, and Month 24 with some assessments by telephone
Duration - Up to 24 months with assessments every 6 months and additional visits as scheduled
Participants are monitored through repeated assessments of muscle function, cognitive function, cardiac health, metabolic status, bulbar function, and quality of life.
Multiple visits at Day 0, Month 1 (telephone), Month 6, Month 12, Month 18, and Month 24
Trial Site Locations
Total: 8 locations
1
Pediatric Rehabilitation Service - L'Escale Mother and Child Hospital
Bron, Rhone, France, 69500
Actively Recruiting
2
CHRU of Brest
Brest, France, 29609
Not Yet Recruiting
3
Pediatric Neurology and Resuscitation Raymond-Poincare Hospital
Garche, France, 92380
Not Yet Recruiting
4
Pediatric Neurology Swynghedauw Hospital
Lille, France, 59037
Not Yet Recruiting
5
Marseille University Hospital - Timone Hospital Department of Pediatric Neurology - Specialized Pediatrics and Child Medicine
Marseille, France, 13005
Not Yet Recruiting
6
I-Motion Pediatric Clinical Trial Platform Armand Trousseau Hospital
Paris, France, 75012
Not Yet Recruiting
7
Hautepierre Hospital - Mother and Child Hospital
Strasbourg, France, 67200
Not Yet Recruiting
8
Department of Pediatrics - Neurology and Infectious Diseases Toulouse University Hospital - Children's Hospital
Toulouse, France, 31059
Not Yet Recruiting
Research Team
L
Laure LE GOFF, PI
T
Tiphanie GINHOUX
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
OTHER
Number of Arms
1
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