DMD gene changes and heart function in boys and young men 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
This study will test whether specific DMD gene changes and routine heart tests (blood biomarkers, ECG, and echocardiography) can help identify early heart problems in boys and young men aged 2–24 with genetically confirmed dystrophinopathies.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 65 (estimated) |
| Ages | 2 Years to 24 Years |
| Sex | Male |
| Sponsor | Aristotle University Of Thessaloniki Academic / other |
| Locations | 1 site (Thessaloniki) |
| Trial ID | NCT07515235 on ClinicalTrials.gov |
What this trial studies
This observational pilot enrolls males aged 2–24 with genetically confirmed pathogenic or likely pathogenic DMD variants to explore links between variant type, location, and extent and cardiac dysfunction. Participants undergo electrocardiography, blood sampling for cardiac biomarkers (including NT‑proBNP and lipid measures such as non‑HDL cholesterol), and transthoracic echocardiography with ejection fraction and global longitudinal strain used to define cardiac involvement. Clinical history, current pharmacological treatments, demographics, and comorbidities are recorded to examine how genotype, biomarkers, ECG findings, age, and therapies relate to early cardiac changes. The study is conducted at AHEPA University Hospital in Thessaloniki, Greece.
Who should consider this trial
Good fit: Ideal candidates are males aged 2–24 with a genetically confirmed pathogenic or likely pathogenic DMD gene variant who can provide informed consent (parental/guardian consent as required).
Not a fit: Patients unlikely to benefit include females, individuals without molecular confirmation of a DMD pathogenic variant, those with congenital heart disease or other primary genetic cardiomyopathies, other neuromuscular disorders, or those outside the 2–24 age range.
Why it matters
Potential benefit: If successful, the findings could enable earlier detection and more tailored cardiac monitoring for young males with dystrophinopathies, potentially reducing heart-related illness and deaths.
How similar studies have performed: Previous research has suggested genotype–cardiac phenotype links and the utility of biomarkers and imaging in dystrophinopathies, but consistent variant-specific predictors of cardiac outcomes remain incompletely established.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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 Criteria: * 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
Where this trial is running
Thessaloniki
- AHEPA University Hospital of Thessaloniki — Thessaloniki, Greece (Recruiting)
Study contacts
- Principal investigator: Andreas Giannopoulos, Professor of Pediatrics and Pediatric Cardiology, MD, PhD — Aristotle University Of Thessaloniki
- Study coordinator: Ioanna Agathokleous, MD, MSc, PhD(c)
- Email: iagatho@auth.gr
- Phone: +30 2313303534
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.