DMD Gene Variants and Cardiac Dysfunction in Young Males With Dystrophinopathies

The goal of this observational study is to investigate whether the type, location, and extent of pathogenic variants in the DMD gene are associated with cardiac dysfunction in male children, adolescents, and young adults with dystrophinopathies. The study also evaluates whether cardiac biomarkers and electrocardiographic findings can facilitate the early identification of cardiac involvement. Participants will undergo electrocardiography, blood sampling for cardiac biomarker assessment, and transthoracic echocardiography, with cardiac dysfunction evaluated using ejection fraction (EF) and global longitudinal strain (GLS).

NCT Number	NCT07515235
Lead Sponsor	Aristotle University Of Thessaloniki Collaborators: AHEPA University Hospital
Conditions	Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy, Cardiomyopathy
Enrollment	65 participants
Start Date	2026-01-26
Primary Completion	2028-01 (estimated)
Study Completion	2028-02 (estimated)
Updated on ClinicalTrials.gov	2026-04-07