Remote Study of Genetic Factors and Movement in Children with Myotonic Dystrophy Type 1

What this Trial Is About

Myotonic dystrophy type 1 DM1 affects children in different and often more severe ways compared to adults. Symptoms can vary even within the same family. Because previous studies included only a small number of children, this research aims to better understand the differences in symptoms and their causes in children with congenital, childhood, or juvenile DM1. This observational study is conducted remotely using video calls, so families do not need to travel. Researchers will send families an iPad and necessary tools to participate from home. During video visits, children will perform simple activities to assess muscle, heart, and brain function, with help from parents or guardians when needed. After the video assessment, a small blood sample will be collected either at home or a local lab to analyze genetic factors related to symptoms. Parents can choose to receive their childs genetic test results. Participants will take part in activities that assess cognitive function, grip strength, hand movement speed, walkingrunning ability, and overall activity over 12 months using remote methods. The study will also collect genetic data at the start. The total involvement includes video assessments, blood sample collection, and ongoing remote monitoring to better understand how DM1 affects children. The study is sponsored by the University of Rochester and runs through January 2030.

Remote Assessments and Genetic Determinants of Congenital and Childhood Myotonic Dystrophy