Spanish Natural History Study for LAMA2 Muscular Dystrophy
Hospital Universitari Vall d'Hebron Research Institute
100 participants
Jul 27, 2021
OBSERVATIONAL
Conditions
Summary
The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of LAMA2-related dystrophies (LAMA2-RD) in the pediatric population. The study aims to establish a well-defined cohort of patients in Spain, enabling long-term follow-up and facilitating recruitment for future clinical trials.
Eligibility
Inclusion Criteria2
- All patients with compatible clinical presentation and identification of 2 pathogenic variants in LAMA2, or muscle biopsy with decreased laminin alpha2 protein and at least one pathogenic variant
- Signed informed consent by the Legal Authority Responsible and/or assent by the subject (starting from 6 years old)
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Interventions
Evaluation of patients motor function using motor scales (MFM32, CHOP)
Ultrasound guided evaluation of 28 muscles evaluated accross different body regions, assessed using the Heckmatt gradinf system (semiquantitative scale).
Assess the mechanical properties of muscles, such as stiffness and elasticity.
Complete physical evaluations including muscle power and goniometry measurements
Assessment of ventilatory, respiratory, and other support needs to evaluate the necessity of assistive devices
Assessment of bulbar funcionality: feeding devices, nutritional status.
Motor milestones age of acquisition and loss
Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT06924125