DMD Gene Variants and Cardiac Dysfunction in Young Males With Dystrophinopathies
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexMale
Age2-24
SponsorAristotle University Of Thessaloniki
About this trial
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
Qualifiers
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
Disqualifiers
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
Trial design
Treatments tested in this trial
- Not listed
Trial groups
65 Participants
are grouped into 1 trial groupSponsors and collaborators
Aristotle University Of Thessaloniki
Lead sponsor
AHEPA University Hospital
Collaborator
Source ClinicalTrials.gov