Long-Term Observational Study of Clinical Outcomes and Biomarkers in Adults Aged 18 to 70 with Myotonic Dystrophy Type 1

What this Trial Is About

Myotonic Dystrophy type 1 DM1 is a genetic disorder that causes progressive muscle weakness, myotonia, and affects various systems including cognition, heart rhythm, breathing, and vision. This observational study aims to understand how DM1 progresses over at least four years in adults aged 18 to 70. Researchers want to track changes in clinical measures and explore if long-term changes in heart and lung function can serve as reliable biomarkers for disease progression. Participants include adults diagnosed with DM1 or congenital myotonic dystrophy CDM, including those continuing from a related parent study and new enrollees. The study does not involve treatment but follows participants over time to collect data. Throughout the study, assessments of walking speed, hand function, muscle strength, heart rhythm ECG, lung function FVC, and activity levels will be conducted annually for four years. Participants will be evaluated at baseline and then yearly for four years to track disease progression using various tests and questionnaires. These include timed walkingrunning tests, grip strength measurements, ECGs, lung function tests, and activity assessments. The study monitors changes over time to better characterize the disease course and identify potential markers. The total participation duration may extend up to four years, with regular evaluations to monitor health status and disease impact.

Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) Extension