DMD Gene Variants and Cardiac Dysfunction in Young Males With Dystrophinopathies

Sponsor
Aristotle University Of Thessaloniki
Study ID
NCT07515235
Status
Recruiting
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Conditions

  • Becker Muscular Dystrophy
  • Cardiomyopathy
  • Duchenne Muscular Dystrophy (DMD)

Eligibility Criteria

Sex
MALE
Age
2 Years - 24 Years
Healthy Volunteers
Not accepted

Study Details

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).

Key Dates

Start date
Jan 26, 2026
Status verified
Mar 2026
Primary completion
Jan 31, 2028
Completion
Feb 29, 2028

Study Design

Enrollment
65 participants (estimated)

Arms

  • Arm: Male participants with genetically confirmed dystrophinopathies
    Male children, adolescents, and young adults aged 2 to 24 years with genetically confirmed dystrophinopathies caused by pathogenic or likely pathogenic variants in the DMD gene.

Primary Outcome Measure

Correlation between pathogenic DMD gene variants and left ventricular ejection fraction (EF) [ Time Frame: On the day of the baseline assessment ]

Central Contacts

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