Study of the Natural History and Organ Effects in Patients With Laminin-Alpha-2-Related Dystrophy LAMA2-RD and Identification of New Disease Biomarkers

What this Trial Is About

Researchers are studying Laminin-Alpha-2-Related Dystrophy LAMA2-RD, a genetic condition causing muscular dystrophy with varying severity from early-onset congenital forms to milder adult cases. This observational study aims to understand how the disease affects multiple organs, including the heart, nerves, lungs, nutrition, bones, and brain, especially focusing on adults. It also seeks to clarify how quality of life and transition to adulthood are impacted and to develop better disease classifications to support future clinical trials. Participants will undergo both retrospective and prospective clinical assessments every 12 months for two years at multiple centers. A subset of about 20 adult participants will have cardiac MRI scans with contrast to examine heart involvement. Biological samples collected during routine blood tests will be used for future research. The study will analyze differences in organ involvement among various patient subgroups. During the study, participants will be evaluated through clinical visits every year for two years, including motor and respiratory function tests and cardiac assessments. Researchers will measure heart rhythm abnormalities, cardiac function, and inflammation at the start and during follow-up visits. The study also tracks motor abilities and respiratory function at these intervals. Participants will provide informed consent and attend scheduled visits to help monitor disease progression and gather comprehensive data.

Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers