Research on Heart Function and Risk Prediction in Duchenne and Becker Muscular Dystrophy Patients and Carriers Using Cardiac MRI

What this Trial Is About

Dystrophin associated heart dysfunction is a leading cause of death in patients with Duchenne and Becker Muscular dystrophy DMDBMD and carriers of these conditions MDC. This research aims to better understand how heart dysfunction progresses in these patients and identify measures from cardiac MRI images that can predict death or significant heart disease. The study will create a large clinical and cardiac MRI registry to improve knowledge about this condition and help guide future therapies. Participants with DMD, BMD, or MDC will be enrolled in a prospective registry across multiple centers where clinical data and cardiac magnetic resonance CMR images are collected regularly, approximately every 1 to 2 years. Advanced image analysis techniques, including deep learning neural networks, will be used to evaluate every patient comprehensively. The study aims to develop a risk toolkit accessible worldwide to help clinicians assess patient risk and guide treatment. Participants will provide clinical information and undergo CMR imaging at scheduled intervals over several years, with an anticipated enrollment of 950 patients and over 4000 CMR studies. Researchers will analyze disease progression and mortality risk using statistical and machine learning models. The primary outcome measured is mortality tracked over up to 10 years. This long-term observational study seeks to identify surrogate outcome measures to support future therapeutic trials and improve care for patients with dystrophin associated heart dysfunction.

Modeling Mortality in Duchenne Muscular Dystrophy Cardiomyopathy: Identification of Surrogate Outcome Measures for DMD Drug Trials