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
This trial does not accept healthy volunteersQualifiers
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 population
Participants with genetically confirmed dystrophinopathies followed at the Neuromuscular Disorders Unit of the 2nd Department of Pediatrics, AHEPA University Hospital, Thessaloniki, Greece.
Trial design
Design model
Case-only
Time perspective
Cross-sectional
Treatments tested in this trial
Not listed
Trial groups
65 Participants
are grouped into 1 trial groupGroup A: Male participants with genetically confirmed dystrophinopathies
Trial outcomes
Primary outcomes
1
Correlation between pathogenic DMD gene variants and left ventricular ejection fraction (EF)
Correlation between the type, location, and extent of pathogenic variants in the DMD gene and left ventricular ejection fraction (%), measured using the Simpson's biplane method by transthoracic echocardiography.
Time frame
On the day of the baseline assessment2
Correlation between pathogenic DMD gene variants and global longitudinal strain (GLS)
Correlation between the type, location, and extent of pathogenic variants in the DMD gene and global longitudinal strain (%), derived from speckle-tracking echocardiography and measured offline from recorded echocardiographic images.
Time frame
On the day of the baseline assessment3
Correlation between pathogenic DMD gene variants and blood levels of high-sensitivity troponin T (hs-TnT)
Correlation between the type, location, and extent of pathogenic variants in the DMD gene and blood levels of high-sensitivity troponin T (pg/mL), measured from venous blood samples.
Time frame
On the day of the baseline assessment4
Correlation between pathogenic DMD gene variants and blood levels of N-terminal pro-brain natriuretic peptide (NT-proBNP)
Correlation between the type, location, and extent of pathogenic variants in the DMD gene and blood levels of N-terminal pro-brain natriuretic peptide (pg/mL), measured from venous blood samples.
Time frame
On the day of the baseline assessmentSecondary outcomes
1
Frequency of electrocardiographic abnormalities in participants with and without cardiac dysfunction
Frequency (%) of electrocardiographic abnormalities, including rhythm disturbances, conduction abnormalities, and repolarization changes, compared between participants with and without cardiac dysfunction, as assessed by electrocardiography.
Time frame
On the day of the baseline assessment2
Blood levels of high-sensitivity troponin T in participants with and without cardiac dysfunction
Blood levels of high-sensitivity troponin T (hs-TnT), measured in pg/mL from venous blood samples, compared between participants with and without cardiac dysfunction.
Time frame
On the day of the baseline assessment3
Blood levels of NT-proBNP in participants with and without cardiac dysfunction
Blood levels of N-terminal pro-brain natriuretic peptide (NT-proBNP), measured in pg/mL from venous blood samples, compared between participants with and without cardiac dysfunction.
Time frame
On the day of the baseline assessment4
Correlation between age and the presence of cardiac dysfunction
Correlation between age (years) and the presence of cardiac dysfunction, based on echocardiographic criteria.
Time frame
On the day of the baseline assessmentSponsors and contacts
Click on the lead sponsor to view all of their trials.
Aristotle University Of Thessaloniki
Lead sponsor
AHEPA University Hospital
Collaborator
Source ClinicalTrials.gov