DMD Gene Variants and Cardiac Dysfunction in Young Males With Dystrophinopathies
NCT07515235 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 65
Last updated 2026-04-07
Summary
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).
Conditions
- Duchenne Muscular Dystrophy (DMD)
- Becker Muscular Dystrophy
- Cardiomyopathy
Sponsors & Collaborators
-
AHEPA University Hospital
collaborator OTHER -
Aristotle University Of Thessaloniki
lead OTHER
Principal Investigators
-
Andreas Giannopoulos, Professor of Pediatrics and Pediatric Cardiology, MD, PhD · Aristotle University Of Thessaloniki
Eligibility
- Min Age
- 2 Years
- Max Age
- 24 Years
- Sex
- MALE
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2026-01-26
- Primary Completion
- 2028-01-31
- Completion
- 2028-02-29
Countries
- Greece
Study Locations
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