Studying Cerebrospinal Fluid and Brain Activity in Adults with Myotonic Dystrophy

What this Trial Is About

Myotonic dystrophy type 1 is linked to central sleep apnea, excessive daytime sleepiness, and challenges with memory, visuospatial skills, and problem-solving. Researchers are studying the disease by examining cerebrospinal fluid CSF, which surrounds and protects the brain, to find early changes in brain activity and function. This observational study aims to improve our understanding of myotonic dystrophy, which may help with future evaluation, prevention, diagnosis, and treatment. The study is sponsored by Massachusetts General Hospital and funded by the FDA OOPD. Participants will be asked to provide a CSF sample through a lumbar puncture, a urine sample, complete a cognitive assessment, and have an MRI scan. These procedures will be done once per year for two years in the longitudinal group, while the single group will complete them once. The lumbar puncture and MRI are low-risk procedures and are well tolerated. During the study, participants will undergo assessments including cognitive tests, MRI brain scans, and sample collections to monitor extracellular RNA splice variants in biofluids over five years. Researchers will also evaluate clinical and demographic data. Participation involves yearly visits with MRI and sample collection, lasting up to two years, with outcomes measured through the changes detected in the brain and CSF. Safety and ability to consent are monitored throughout the study.

Cerebrospinal Fluid Biomarkers of Myotonic Dystrophy