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
235 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official 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)
- 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...
- 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)
- Specific contraindication to MRI (metallic foreign body, claustrophobia, or other reasons) will exclude MRI but not study participation
AI-Screening
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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
CONTACT
T
Tiphanie GINHOUX
CONTACT
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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