Yükleniyor... / Loading...
This observational study examines the relationship between variants in the DMD gene and cardiac dysfunction in young males with a dystrophinopathy. Males aged 2 to 24 with a genetically confirmed pathogenic variant in the DMD gene may take part. This is a study with no assigned phase and it is currently recruiting participants.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
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