NCT07515235Recruiting
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
Source: ClinicalTrials.gov · Last updated 7 Apr 2026
Brief summary (registry, in English)
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).
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 65 (estimated)
- First submitted
- 20 Mar 2026
- Start date
- 26 Jan 2026
- Primary completion date
- Jan 2028
- Lead sponsor
- Aristotle University Of Thessaloniki
- Diseases
- Duchenne muscular dystrophy
- NCT number
- NCT07515235
What you commit to
- Study type: Observational
- Planned participants: 65
- From 26 Jan 2026 to the primary completion date, Jan 2028
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- Presence of congenital heart disease or other genetic disorders causing primary cardiomyopathy
- Presence of other neuromuscular disorders
- Comorbidities that may independently affect cardiac function, such as severe arterial hypertension, diabetes mellitus, or chronic kidney disease
Other
- 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
- Female carriers, including both manifesting and asymptomatic carriers
Who the study is looking for
- 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
Age in the registry: 2 years to 24 years · Sex: Male · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| AHEPA University Hospital of Thessaloniki Coordinator of this site? Confirm its status | Thessaloniki | Greece | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.