Observing the progression of LAMA2-related muscular dystrophies in children
A Prospective, Longitudinal, Interventional Natural History Study of Children With LAMA2-related Dystrophies
This study is looking at how LAMA2-related muscular dystrophies affect children over time to better understand the disease and help prepare for future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 40 (estimated) |
| Ages | 2 Years to 15 Years |
| Sex | All |
| Sponsor | Institut de Myologie, France Academic / other |
| Locations | 4 sites (Garches and 3 other locations) |
| Trial ID | NCT06354790 on ClinicalTrials.gov |
What this trial studies
This observational study aims to characterize the disease course and clinical features of children diagnosed with LAMA2-related dystrophies, specifically focusing on Merosin Deficient Congenital Muscular Dystrophy. Over a two-year period, participants will undergo comprehensive assessments including muscular and respiratory function, cognitive abilities, quality of life, growth parameters, and biomarker evaluations. The study seeks to establish a well-defined cohort of patients in France for future clinical trials and to validate various outcome measures relevant to the disease. By collecting prospective data, the study aims to reduce bias and variability in results compared to retrospective studies.
Who should consider this trial
Good fit: Ideal candidates for this study are children aged 6 years and older with a confirmed diagnosis of LAMA2-related dystrophies.
Not a fit: Patients with developmental quotients less than 70 or those with behavioral disorders requiring general anesthesia for MRI may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide critical insights into the natural progression of LAMA2-related dystrophies, aiding in the development of targeted therapies.
How similar studies have performed: While this study builds on the need for natural history data in LAMA2-related dystrophies, it is part of a broader effort that has seen success in similar observational studies.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Signed informed consent by the Legal Authority Responsible and/or assent by the subject (starting from 6 years old) * Subject must be * Supportive clinical phenotype and diagnosis of LAMA2-RD, confirmed by: * Two pathogenic variants in the LAMA2 gene (via a diagnostic laboratory included on an approved list of genetic testing laboratories (Annex 1)) or * Muscle biopsy with absence of merosin (laminin-211) and at least one pathogenic variant in the LAMA2 gene * Absence of another confirmed neurological genetic disease * Willingness to maintain current exercise and/or physical therapy regimen for the duration of the clinical study * Willingness to comply with the study protocol, including all the mandatory study procedures and visits * Affiliated to or a beneficiary of a French or acknowledged in France, social security scheme Exclusion Criteria: * Developmental quotient less than 70 and/or behavioral disorder requiring general anesthesia to perform an MRI * Acute medical illness or hospitalization within 30 days prior to informed consent * Participation in a previous trial of any investigational agent for LAMA2-RD, or use of any other investigational therapy within 30 days prior to informed consent, or participation in other clinical studies, within 30 days (or 5 half-lives, whichever is longer) prior to informed consent, which, in the opinion of the PI, may potentially confound results from this study * Other significant medical condition and/or overall fragility of medical status, which in the opinion of the Investigator may confound interpretation of the clinical course of LAMA2-RD * Pregnant or breastfeeding women
Where this trial is running
Garches and 3 other locations
- Centre de Référence GNMH, Pédiatrie Hôpital Raymond-Poincaré — Garches, France (Not_yet_recruiting)
- Service de MPR pédiatrique L'Escale - HCL — Lyon, France (Not_yet_recruiting)
- Département de neuropédiatrie Pôle Femme Mère Enfant CHU de Montpellier - Hôpital Gui de Chauliac — Montpellier, France (Not_yet_recruiting)
- Plateforme d'essais cliniques pédiatriques iMotion — Paris, France (Recruiting)
Study contacts
- Study coordinator: Andreea SEFERIAN, Dr
- Email: a.seferian@institut-myologie.org
- Phone: +33 (0)1 71 73 80 50
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.