Study of Remote Monitoring and Genetic Factors in Adults with Myotonic Dystrophy Type 1

What this Trial Is About

This observational study focuses on people with myotonic dystrophy type 1 DM1, a disease that varies widely in how it affects individuals. Researchers aim to better understand the reasons behind these differences by studying how DM1 impacts skeletal and smooth muscles, the heart, and the nervous system. They also plan to analyze genetic differences through blood samples to help identify effective ways to measure symptoms. Participants will take part from their own homes without needing to travel to a study site. They will receive a toolkit by mail, including an iPad with video conferencing software for medical interviews and functional assessments conducted remotely. Blood samples will be collected either at a local lab or through a home draw device and sent for genetic testing. Participants can choose to receive their genetic test results if they wish. During the study, participants will be assessed remotely over 12 months for grip strength, cognitive function, activity levels, and mobility using the Timed Up and Go test. Genetic testing is done at the start of the study. The research team will monitor symptoms and function through video calls and collected data, allowing for ongoing evaluation without in-person visits. The study will continue until 2030, and participants can engage comfortably from home throughout this period.

Remote Assessments and Genetic Determinants of Myotonic Dystrophy