Natural History Study of Children With LAMA2-related Dystrophies
A Prospective, Longitudinal, Interventional Natural History Study of Children With LAMA2-related Dystrophies
Institut de Myologie, France
40 participants
Dec 5, 2024
OBSERVATIONAL
Conditions
Summary
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
Inclusion Criteria9
- 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 Criteria5
- 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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Interventions
Evaluation of patients motor function using motor scales (MFM32, RULM), Timed functioned tests (6MWT, Rise from floor, 4SCT, 10mWT), dynamometric strength evaluation (grip, pinch, flexion/extension)
Patients cognitive evaluation (WPPSI-IV, WISC-V)
Evaluation of patients' respiratory function (FVC, PCF, MIP, MEP, SNIP)
Evaluation of patients' cardiac function (ECG, Echo-cardiography)
Evaluation of patients quality of life with questionnaires and PROM
Evaluation of spinal deformities by X-ray
Evaluation of a qualitative whole-body muscle part and a quantitative lower limb muscle part by MRI
Collection of blood and urinary sample for biomarkers research.
Locations(4)
View Full Details on ClinicalTrials.gov
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NCT06354790