NCT07515235 DMD Gene Variants and Cardiac Dysfunction in Young Males With Dystrophinopathies
| NCT ID | NCT07515235 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Aristotle University Of Thessaloniki |
| Condition | Duchenne Muscular Dystrophy (DMD) |
| Study Type | OBSERVATIONAL |
| Enrollment | 65 participants |
| Start Date | 2026-01-26 |
| Primary Completion | 2028-01 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 65 participants in total. It began in 2026-01-26 with a primary completion date of 2028-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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 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
Contact & Investigator
Andreas Giannopoulos, Professor of Pediatrics and Pediatric Cardiology, MD, PhD
PRINCIPAL INVESTIGATOR
Aristotle University Of Thessaloniki
Frequently Asked Questions
Who can join the NCT07515235 clinical trial?
This trial is open to male participants only, aged 2 Years or older, up to 24 Years, studying Duchenne Muscular Dystrophy (DMD). Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07515235 currently recruiting?
Yes, NCT07515235 is actively recruiting participants. Contact the research team at iagatho@auth.gr for enrollment information.
Where is the NCT07515235 trial being conducted?
This trial is being conducted at Thessaloniki, Greece.
Who is sponsoring the NCT07515235 clinical trial?
NCT07515235 is sponsored by Aristotle University Of Thessaloniki. The principal investigator is Andreas Giannopoulos, Professor of Pediatrics and Pediatric Cardiology, MD, PhD at Aristotle University Of Thessaloniki. The trial plans to enroll 65 participants.