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Natural History Study of Children With LAMA2-related Dystrophies

Recruitingn/aAges 2 Years - 15 YearsAllInstitut de Myologie, France
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In plain words

What the trial is, and whether it could suit you

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

Sign in to get the eligibility rules as simple questions to take to your doctor.

📋 Eligibility rules (as published)
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
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What it tests

  • Motor evaluations
  • Cognitive assessment
  • Pulmonary function test
  • Cardiac evaluation
  • Quality of life
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Where

4 sites
Centre de Référence GNMH, Pédiatrie Hôpital Raymond-Poincaré
Garches, France
Service de MPR pédiatrique L'Escale - HCL
Lyon, France
Département de neuropédiatrie Pôle Femme Mère Enfant CHU de Montpellier - Hôpital Gui de Chauliac
Montpellier, France
Plateforme d'essais cliniques pédiatriques iMotion
Paris, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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