Natural History Study of Children With LAMA2-related Dystrophies
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age2-15
SponsorInstitut de Myologie, France
About this trial
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
Eligibility criteria
Qualifiers
Signed informed consent by the Legal Authority Responsible and/or assent by the subject (starting from 6 years old)
Subject must be
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
Disqualifiers
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
Trial design
Treatments tested in this trial
- Motor evaluations
- Cognitive assessment
- Pulmonary function test
- Cardiac evaluation
- Quality of life
- Spine X Ray
- Muscular MRI
- Biomarkers collection and analysis
Treatment groups
40 Participants
are divided into 1 treatment groupSponsors and collaborators
Institut de Myologie, France
Lead sponsor
Association Française contre les Myopathies (AFM), Paris
Collaborator
Source ClinicalTrials.gov