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Heart gene link explored in muscular dystrophy study

NCT ID NCT07515235

Knowledge-focused Sponsor: Aristotle University Of Thessaloniki Source: ClinicalTrials.gov ↗

What the study statuses mean

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Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study aims to understand how different types of changes in the DMD gene are linked to heart problems in boys and young men with Duchenne or Becker muscular dystrophy. Researchers will use heart tests and blood samples to look for early signs of heart issues. The study involves 65 male participants aged 2 to 24. The goal is to improve early detection and care for heart complications in these conditions.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 65 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jan 2026

Expected to finish

Feb 2028

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Participants with genetically confirmed dystrophinopathies followed at the Neuromuscular Disorders Unit of the 2nd Department of Pediatrics, AHEPA University Hospital, Thessaloniki, Greece.

Ages

2 to 24 years

Sex

Male participants only

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

Becker muscular dystrophy cardiomyopathy Duchenne muscular dystrophy

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Becker muscular dystrophy Cardiomyopathy Duchenne muscular dystrophy (DMD)

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • AHEPA University Hospital of Thessaloniki

    RECRUITING

    Thessaloniki, Greece

More trials for these conditions

Other studies related to the condition(s) this trial covers.