Study to Identify Biomarkers and Clinical Measures in Adults With Myotonic Dystrophy Type 1 Aged 18 to 70

What this Trial Is About

Researchers are studying Myotonic Dystrophy 1 DM1, a condition with varied symptoms and biological features, to better understand its natural history and improve biomarker reliability. This observational study aims to refine sample collection and analysis methods to manage patient differences and capture the full range of disease severity. About 700 adult participants aged 18 to 70 will take part across multiple centers. Participants will not receive any experimental treatments but will continue with their usual medical care. Study visits are scheduled at baseline, 12 months, and 24 months. A subset will join additional sub-studies including muscle biopsies at 3 months or later, COVID-19 surveys and blood analysis, physical activity monitoring with wearable devices, and extra muscle strength testing with handheld devices. Throughout the study, participants will complete physical assessments, questionnaires, and functional tests. Researchers will measure changes in walking speed, respiratory function, and muscle splicing over time. Some participants will provide muscle tissue samples. Data from surveys and wearable activity monitors will help assess disease progression. The study will monitor participants for up to 24 months with scheduled visits and occasional additional assessments.

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