Observational Study of Children Up to 5 Years Old With LAMA2-Related Congenital Muscular Dystrophy Tracking Movement and Health Over 24 Months

What this Trial Is About

This observational study aims to understand how young children aged 0 to 5 years with LAMA2-related congenital muscular dystrophy LAMA2-RD move and change over time, while also examining the effects of this condition on other body systems. The study is designed to follow the natural history of LAMA2-RD and identify early outcome measures for this rare condition. Researchers plan to enroll around 44 children across multiple centers to gather comprehensive data. Participants will attend in-person visits at baseline, 6, 12, 18, and 24 months, with additional remote visits at months 3, 9, 15, and 21 to compare outcomes. Physical and neuromuscular assessments appropriate for age will be performed, including motor milestone evaluations, neuromuscular outcome scores, respiratory and swallowing assessments, and muscle ultrasound at some sites. Blood samples will be collected at each in-person visit for biomarker research, and medical records will be reviewed for standard care data. Throughout the study, caregivers will complete questionnaires about quality of life and disability, while clinicians evaluate global impressions of change. Safety is monitored through adverse event reporting every three months. The total participation lasts up to 24 months, with encouragement to complete an end-of-study visit if participants discontinue early. This study tracks how motor function and development evolve in young children with LAMA2-RD over two years.

Observation Study in Patients Age 0-5 Years With LAMA2-related Congenital Muscular Dystrophy