Actively Recruiting
Natural History Study of Children With LAMA2-related Dystrophies
Led by Institut de Myologie, France · Updated on 2024-12-12
40
Participants Needed
4
Research Sites
160 weeks
Total Duration
On this page
Sponsors
I
Institut de Myologie, France
Lead Sponsor
A
Association Française contre les Myopathies (AFM), Paris
Collaborating Sponsor
AI-Summary
What this Trial Is About
The goal of this natural history study is to characterize the disease course, characteristics in paediatric population of LAMA2-RD (related dystrophies) patients. The aim of the study is to establish a well-described cohort of patients in France with LAMA2-RD for prospective follow-up and recruitment for future clinical trials. Participants will be follow up during a two years period regarding exhaustive aspects of the pathology: * Muscular function * Respiratory function * Cognitive phenotyping * Quality of life * Growth parameters * Biomarkers
CONDITIONS
Official Title
Natural History Study of Children With LAMA2-related Dystrophies
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Signed informed consent by the Legal Authority Responsible and/or assent by the subject starting from 6 years old
- Supportive clinical phenotype and diagnosis of LAMA2-RD confirmed by two pathogenic variants in the LAMA2 gene or muscle biopsy showing absence of merosin and at least one pathogenic variant in LAMA2
- Absence of another confirmed neurological genetic disease
- Willingness to maintain current exercise and/or physical therapy regimen during the study
- Willingness to follow the study protocol including all mandatory procedures and visits
- Affiliated with or beneficiary of a French or recognized social security scheme
You will not qualify if you...
- Developmental quotient less than 70 and/or behavioral disorder requiring general anesthesia for MRI
- Acute medical illness or hospitalization within 30 days before giving consent
- Participation in previous investigational trials for LAMA2-RD or other clinical studies within 30 days or 5 half-lives before consent that may affect study results
- Other significant medical conditions or overall fragile health that may affect interpretation of LAMA2-RD progression
- Pregnant or breastfeeding women
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 4 locations
1
Centre de Référence GNMH, Pédiatrie Hôpital Raymond-Poincaré
Garches, France
Not Yet Recruiting
2
Service de MPR pédiatrique L'Escale - HCL
Lyon, France
Not Yet Recruiting
3
Département de neuropédiatrie Pôle Femme Mère Enfant CHU de Montpellier - Hôpital Gui de Chauliac
Montpellier, France
Not Yet Recruiting
4
Plateforme d'essais cliniques pédiatriques iMotion
Paris, France
Actively Recruiting
Research Team
A
Andreea SEFERIAN, Dr
CONTACT
E
Erwan GASNIER, PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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