Study to Understand and Assess Pediatric Congenital and Childhood Myotonic Dystrophy for Future Clinical Trials

What this Trial Is About

This research aims to better understand congenital myotonic dystrophy CDM and childhood myotonic dystrophy ChDM, which are inherited disorders affecting multiple body systems in children. CDM appears at birth with serious symptoms like breathing problems and feeding difficulties, while ChDM begins after birth but before age 10 with similar but generally less severe effects. The study seeks to develop better clinical assessments and biomarkers for these conditions to aid future drug trials, especially since current adult trials cannot be directly applied to children due to differences in symptoms and disease progression. The study will enroll up to 200 children with either CDM or ChDM. No treatments are given as part of this study participants will continue to receive their usual medical care. Study visits will take place at the start of the study Baseline, and then again at 12 months and 24 months. During these visits, researchers will perform various physical and cognitive tests to track changes in mobility, muscle strength, language, sleepiness, behavior, and quality of life. Participants will be involved in detailed assessments including walking tests, motor function evaluations, hand strength measurements, and questionnaires on sleepiness and quality of life. Researchers will also monitor language abilities, repetitive behaviors, and adaptive skills. These evaluations will help measure changes over 24 months and improve the tools used in clinical trials for these diseases. The study is sponsored by Virginia Commonwealth University and is expected to continue through June 2030.

Trial Readiness and Endpoint Assessment in Pediatric Myotonic Dystrophy Extension