Duchenne Muscular Dystrophy (DMD)NCT07515235
DMD Gene Variants and Cardiac Dysfunction in Young Males With Dystrophinopathies
An observational study of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy, run by Aristotle University Of Thessaloniki at 1 site in Greece.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 2 to 24 years, men only
- Conditions the study is for
- Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy, Cardiomyopathy
- How many people
- 65 participants
- Where
- 1 siteGreece
- Study dates
- 26 Jan 2026to Feb 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 24 years
- Men only
- No healthy volunteers
- Child, Adult
Study population: Participants with genetically confirmed dystrophinopathies followed at the Neuromuscular Disorders Unit of the 2nd Department of Pediatrics, AHEPA University Hospital, Thessaloniki, Greece.
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Greece1 site, 1 recruiting
- Recruiting
AHEPA University Hospital of Thessaloniki
Thessaloniki
Ioanna Agathokleous, MD, MSc, PhD(c), +302313303534, iagatho@auth.gr
About this study
Official title: Correlation of Pathogenic Variants in the DMD Gene With Cardiac Dysfunction in Male Children, Adolescents, and Young Adults With Dystrophinopathies: A Pilot Study
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).
Read the detailed description
Pathogenic variants in the DMD gene lead to a spectrum of clinical phenotypes known as dystrophinopathies, with Duchenne muscular dystrophy and Becker muscular dystrophy representing the most common forms. Beyond progressive skeletal muscle weakness, a substantial proportion of patients have cardiac involvement, often progressing to dilated cardiomyopathy -a major cause of morbidity and the leading cause of mortality in this population. Although cardiac involvement is well recognized in dystrophinopathies, the relationship between specific DMD gene variants and the severity or pattern of cardiac dysfunction has not been fully clarified.
This observational pilot study is designed to investigate the association between the type, location, and extent of pathogenic variants in the DMD gene and cardiac dysfunction in male children, adolescents, and young adults aged 2 to 24 years with genetically confirmed dystrophinopathies. In addition to evaluating genotype-cardiac phenotype associations, the study explores whether cardiac biomarkers, electrocardiographic abnormalities, age, ongoing pharmacological treatment, and lipid-related parameters, including non-HDL cholesterol, are associated with early cardiac involvement.
Participants will undergo a structured clinical and cardiac evaluation, including collection of demographic and clinical data, medical history, pharmacological treatment, and comorbidities. Blood samples will be collected at the baseline assessment for measurement of cardiac biomarkers and lipid-related parameters. Cardiological evaluation will be performed in all participants and will comprise electrocardiography and transthoracic echocardiography. Echocardiographic assessment will include both conventional and deformation-based indices of left ventricular systolic function, including ejection fraction and global longitudinal strain.
By integrating genetic, biochemical, electrocardiographic, and echocardiographic data, this multidimensional approach seeks to improve understanding of genotype-cardiac phenotype associations, facilitate earlier recognition of cardiac involvement, and contribute to more individualized monitoring and clinical management in patients with dystrophinopathies.
- Keywords
- DMD gene, Non-HDL Cholesterol, NT-proBNP, Dystrophinopathy, Duchenne muscular dystrophy, Becker muscular dystrophy, Cardiac dysfunction, Global longitudinal strain, hs-TnT
- Medical subject headings
- Muscular Dystrophy, Duchenne, Cardiomyopathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Male participants with genetically confirmed dystrophinopathies | Male children, adolescents, and young adults aged 2 to 24 years with genetically confirmed dystrophinopathies caused by pathogenic or likely pathogenic variants in the DMD gene. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: On the day of the baseline assessment
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.
Measured: On the day of the baseline assessment
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.
Measured: On the day of the baseline assessment
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.
Measured: On the day of the baseline assessment
Secondary outcomes (6)
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.
Measured: On the day of the baseline assessment
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.
Measured: On the day of the baseline assessment
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.
Measured: On the day of the baseline assessment
Correlation between age and the presence of cardiac dysfunction
Correlation between age (years) and the presence of cardiac dysfunction, based on echocardiographic criteria.
Measured: On the day of the baseline assessment
Ongoing pharmacological treatment in participants with and without cardiac dysfunction
Proportion (%) of participants receiving ongoing pharmacological treatment, compared between participants with and without cardiac dysfunction.
Measured: On the day of the baseline assessment
Non-HDL cholesterol levels in participants with and without cardiac dysfunction
Non-HDL cholesterol levels (mg/dL) compared between participants with and without cardiac dysfunction.
Measured: On the day of the baseline assessment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Apr 2026
- Study start26 Jan 2026
- Primary completionJan 2028 (estimated)
- Study completionFeb 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Duchenne Muscular Dystrophy (DMD)Studies of the same condition, open and under way.
- More trials run by Aristotle University Of ThessalonikiThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 65 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Aristotle University Of Thessaloniki
- Sponsor type
- University, hospital or other
- Collaborators
- AHEPA University Hospital
- Responsible party
- Principal investigator, agiannop, Aristotle University Of Thessaloniki
- Investigators
- Andreas Giannopoulos, Professor of Pediatrics and Pediatric Cardiology, MD, PhD, Principal investigator, Aristotle University Of Thessaloniki
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07515235
- Sponsor's protocol ID
- 133/2026
- Status last verified
- Mar 2026
- First submitted
- 20 Mar 2026
- Last updated
- 7 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Correlation of Pathogenic Variants in the DMD Gene With Cardiac Dysfunction in Male Children, Adolescents, and Young Adults With Dystrophinopathies: A Pilot Study
- ClinicalTrials.gov ID
- NCT07515235
- Acronym / sponsor ID
- 133/2026
- Keywords
- DMD gene, Non-HDL Cholesterol, NT-proBNP, Dystrophinopathy, Duchenne muscular dystrophy, Becker muscular dystrophy, Cardiac dysfunction, Global longitudinal strain
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 65 participants (estimated)
- Lead sponsor
- Aristotle University Of ThessalonikiUniversity, hospital or other
- Collaborators
- AHEPA University Hospital
- Study start
- 26 Jan 2026 (actual)
- Primary completion
- Jan 2028 (estimated)
- Study completion
- Feb 2028 (estimated)
- First posted
- 7 Apr 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Detailed description
Pathogenic variants in the DMD gene lead to a spectrum of clinical phenotypes known as dystrophinopathies, with Duchenne muscular dystrophy and Becker muscular dystrophy representing the most common forms. Beyond progressive skeletal muscle weakness, a substantial proportion of patients have cardiac involvement, often progressing to dilated cardiomyopathy -a major cause of morbidity and the leading cause of mortality in this population. Although cardiac involvement is well recognized in dystrophinopathies, the relationship between specific DMD gene variants and the severity or pattern of cardiac dysfunction has not been fully clarified.
This observational pilot study is designed to investigate the association between the type, location, and extent of pathogenic variants in the DMD gene and cardiac dysfunction in male children, adolescents, and young adults aged 2 to 24 years with genetically confirmed dystrophinopathies. In addition to evaluating genotype-cardiac phenotype associations, the study explores whether cardiac biomarkers, electrocardiographic abnormalities, age, ongoing pharmacological treatment, and lipid-related parameters, including non-HDL cholesterol, are associated with early cardiac involvement.
Participants will undergo a structured clinical and cardiac evaluation, including collection of demographic and clinical data, medical history, pharmacological treatment, and comorbidities. Blood samples will be collected at the baseline assessment for measurement of cardiac biomarkers and lipid-related parameters. Cardiological evaluation will be performed in all participants and will comprise electrocardiography and transthoracic echocardiography. Echocardiographic assessment will include both conventional and deformation-based indices of left ventricular systolic function, including ejection fraction and global longitudinal strain.
By integrating genetic, biochemical, electrocardiographic, and echocardiographic data, this multidimensional approach seeks to improve understanding of genotype-cardiac phenotype associations, facilitate earlier recognition of cardiac involvement, and contribute to more individualized monitoring and clinical management in patients with dystrophinopathies.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Male participants with genetically confirmed dystrophinopathies | – | –Male children, adolescents, and young adults aged 2 to 24 years with genetically confirmed dystrophinopathies caused by pathogenic or likely pathogenic variants in the DMD gene. |
Who may qualify
- Ages
- 2 to 24 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Participants with genetically confirmed dystrophinopathies followed at the Neuromuscular Disorders Unit of the 2nd Department of Pediatrics, AHEPA University Hospital, Thessaloniki, Greece.
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (7 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Correlation between pathogenic DMD gene variants and left ventricular ejection fraction (EF)
Time frame: On the day of the baseline assessment
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.
Correlation between pathogenic DMD gene variants and global longitudinal strain (GLS)
Time frame: On the day of the baseline assessment
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.
Correlation between pathogenic DMD gene variants and blood levels of high-sensitivity troponin T (hs-TnT)
Time frame: On the day of the baseline assessment
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.
Correlation between pathogenic DMD gene variants and blood levels of N-terminal pro-brain natriuretic peptide (NT-proBNP)
Time frame: On the day of the baseline assessment
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.
6 secondary outcomes
Frequency of electrocardiographic abnormalities in participants with and without cardiac dysfunction
Time frame: On the day of the baseline assessment
Blood levels of high-sensitivity troponin T in participants with and without cardiac dysfunction
Time frame: On the day of the baseline assessment
Blood levels of NT-proBNP in participants with and without cardiac dysfunction
Time frame: On the day of the baseline assessment
Correlation between age and the presence of cardiac dysfunction
Time frame: On the day of the baseline assessment
Ongoing pharmacological treatment in participants with and without cardiac dysfunction
Time frame: On the day of the baseline assessment
Non-HDL cholesterol levels in participants with and without cardiac dysfunction
Time frame: On the day of the baseline assessment
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Apr 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Andreas Giannopoulos, Professor of Pediatrics and Pediatric Cardiology, MD, PhD principal investigator
Aristotle University Of Thessaloniki
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy, run by Aristotle University Of Thessaloniki at 1 site in Greece.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 7 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Greece. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Ioanna Agathokleous, MD, MSc, PhD(c) (+30 2313303534, iagatho@auth.gr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Correlation between pathogenic DMD gene variants and left ventricular ejection fraction (EF) (time frame: On the day of the baseline assessment). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Apr 2026.