Actively Recruiting
DMD Gene Variants and Cardiac Dysfunction in Young Males With Dystrophinopathies
Led by Aristotle University Of Thessaloniki · Updated on 2026-04-07
65
Participants Needed
1
Research Sites
105 weeks
Total Duration
On this page
Sponsors
A
Aristotle University Of Thessaloniki
Lead Sponsor
A
AHEPA University Hospital
Collaborating Sponsor
AI-Summary
What this Trial Is About
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).
CONDITIONS
Official Title
DMD Gene Variants and Cardiac Dysfunction in Young Males With Dystrophinopathies
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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
You will not qualify if you...
- No genetically confirmed diagnosis of dystrophinopathy, including diagnosis based only on muscle biopsy without molecular confirmation
- Absence of a confirmed pathogenic variant in the DMD gene, unless repeat genetic testing confirms it
- Presence of congenital heart disease or other genetic disorders causing primary cardiomyopathy
- Presence of other neuromuscular disorders
- Female carriers, both manifesting and asymptomatic
- Comorbidities that may independently affect cardiac function, such as severe arterial hypertension, diabetes mellitus, or chronic kidney disease
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
AHEPA University Hospital of Thessaloniki
Thessaloniki, Greece
Actively Recruiting
Research Team
I
Ioanna Agathokleous, MD, MSc, PhD(c)
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here