Study of DMD Gene Variants and Heart Problems in Boys and Young Men with Dystrophinopathies Aged 2 to 24 Years

What this Trial Is About

This research aims to understand how different types, locations, and extents of harmful changes pathogenic variants in the DMD gene are linked to heart problems in male children, teens, and young adults with dystrophinopathies, including Duchenne and Becker muscular dystrophies. The study also looks at whether certain heart-related blood markers and electrocardiogram ECG results can help detect early heart involvement. These conditions often lead to muscle weakness and serious heart disease, which is a major health concern for affected patients. Participants in this observational study, who are males aged 2 to 24 years with genetically confirmed dystrophinopathies, will undergo a range of tests including ECG, blood sampling for cardiac biomarkers and lipid-related parameters, and heart ultrasound transthoracic echocardiography. Heart function will be assessed by measuring ejection fraction and global longitudinal strain. The study collects detailed clinical and genetic information to explore connections between gene variants and heart health. During the study, participants will have a baseline visit where demographic and clinical data, medical history, and current medications are collected. Blood samples and heart evaluations are performed at this visit. Researchers will analyze genetic, biochemical, ECG, and echocardiographic data to better understand heart involvement, identify early signs of heart problems, and improve personalized care and monitoring for patients with dystrophinopathies. The study is expected to continue until February 2028.

DMD Gene Variants and Cardiac Dysfunction in Young Males With Dystrophinopathies