RecruitingNCT07515235

DMD Gene Variants and Cardiac Dysfunction in Young Males With Dystrophinopathies

Correlation of Pathogenic Variants in the DMD Gene With Cardiac Dysfunction in Male Children, Adolescents, and Young Adults With Dystrophinopathies: A Pilot Study

Sponsor

Aristotle University Of Thessaloniki

Enrollment

65 participants

Start Date

Jan 26, 2026

Study Type

OBSERVATIONAL

Conditions

Duchenne Muscular Dystrophy (DMD)

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).

Eligibility

Sex: MALEMin Age: 2 YearsMax Age: 24 Years

Inclusion Criteria5

Male sex
Age between 2 and 24 years at the time of enrollment
Genetically confirmed dystrophinopathy with a pathogenic or likely pathogenic variant in the DMD gene
Genetic confirmation based on at least one validated method, including MLPA, NGS, Sanger sequencing, array-CGH, or qPCR
Written informed consent from parents or legal guardians and, where applicable, consent from the participant

Exclusion Criteria7

Absence of a genetically confirmed diagnosis of dystrophinopathy, including:
diagnosis based solely on muscle biopsy without molecular confirmation of a pathogenic or likely pathogenic DMD gene variant
absence of a confirmed pathogenic variant in the DMD gene, even if maternal carrier status has been identified, unless repeat genetic testing confirms a pathogenic variant in the participant
Presence of congenital heart disease or other genetic disorders causing primary cardiomyopathy
Presence of other neuromuscular disorders
Female carriers, including both manifesting and asymptomatic carriers
Comorbidities that may independently affect cardiac function, such as severe arterial hypertension, diabetes mellitus, or chronic kidney disease