Natural History Study of LAMA2 Muscular Dystrophy in Children and Adults in Spain Long-Term Monitoring of Disease Progression and Clinical Features

What this Trial Is About

Researchers are conducting a natural history study to better understand how LAMA2-related dystrophies LAMA2-RD, a type of muscular dystrophy, progress in children. The goal is to create a detailed group of patients in Spain to follow over time and to help with future clinical trial recruitment. This observational study aims to capture the clinical features and disease changes in the pediatric population affected by this condition. Participants will undergo various assessments including motor function evaluations using scales like MFM32 and CHOP, muscle ultrasounds assessing 28 muscles across different body areas with a semi-quantitative grading system, and muscle elastography to measure muscle stiffness and elasticity. Additional evaluations include complete physical exams focusing on muscle strength and joint movement, assessments of breathing support needs, feeding and nutritional status, and tracking of motor milestones such as ages when movements are gained or lost. During the study, participants will be monitored over an average of five years with regular assessments of motor function, muscle ultrasound changes, and motor milestone progress. The primary outcomes include changes in motor function scores, muscle ultrasound imaging, and motor milestones from the start to the end of the study. This long-term follow-up will help researchers understand disease progression and support future therapeutic studies.

Spanish Natural History Study for LAMA2 Muscular Dystrophy