DMD gene changes and heart function in boys and young men with dystrophinopathies

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.