Actively Recruiting
Correlation of Pathogenic Variants in the DMD Gene With Cardiac Dysfunction in Male Children, Adolescents, and Young Adults With Dystrophinopathies: A Pilot Study
Led by Aristotle University Of Thessaloniki · Updated on 2026-04-07
65
Participants Needed
1
Research Sites
4 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
This research aims to understand how different types, locations, and extents of harmful changes (pathogenic variants) in the DMD gene are linked to heart problems in male children, teens, and young adults with dystrophinopathies, including Duchenne and Becker muscular dystrophies. The study also looks at whether certain heart-related blood markers and electrocardiogram (ECG) results can help detect early heart involvement. These conditions often lead to muscle weakness and serious heart disease, which is a major health concern for affected patients. Participants in this observational study, who are males aged 2 to 24 years with genetically confirmed dystrophinopathies, will undergo a range of tests including ECG, blood sampling for cardiac biomarkers and lipid-related parameters, and heart ultrasound (transthoracic echocardiography). Heart function will be assessed by measuring ejection fraction and global longitudinal strain. The study collects detailed clinical and genetic information to explore connections between gene variants and heart health. During the study, participants will have a baseline visit where demographic and clinical data, medical history, and current medications are collected. Blood samples and heart evaluations are performed at this visit. Researchers will analyze genetic, biochemical, ECG, and echocardiographic data to better understand heart involvement, identify early signs of heart problems, and improve personalized care and monitoring for patients with dystrophinopathies. The study is expected to continue until February 2028.
CONDITIONS
Brief 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...
- Absence of a genetically confirmed diagnosis of dystrophinopathy, including diagnosis based solely on muscle biopsy without molecular confirmation
- Absence of a confirmed pathogenic variant in the DMD gene, even if maternal carrier status is identified, unless repeat genetic testing confirms it 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
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 1 day
Participants undergo a structured clinical and cardiac evaluation including collection of demographic and clinical data, medical history, pharmacological treatment, and comorbidities. Blood samples are collected for measurement of cardiac biomarkers and lipid-related parameters. Cardiological evaluation includes electrocardiography and transthoracic echocardiography assessing left ventricular systolic function.
1 baseline visit (in-person)
Duration - Up to 4 years
Participants are monitored over time to observe the progression or presence of cardiac dysfunction associated with dystrophinopathies using integrated genetic, biochemical, electrocardiographic, and echocardiographic data.
Follow-up visits as needed based on clinical evaluation
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)
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
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