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Gene mutations may hold clues to brain differences in duchenne

NCT ID NCT07125898

Knowledge-focused Sponsor: Assistance Publique - Hôpitaux de Paris Source: ClinicalTrials.gov ↗

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Recruitment status, easiest to join first

Recruiting now This study
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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.
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Paused for now. It may or may not start again.
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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 Results may not be published yet.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)

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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

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Status unknown
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First seen Sep 22, 2026 · Last updated Sep 23, 2026 · Updated 1 time

Summary

Researchers in France are studying how different mutations in the DMD gene relate to brain, vision, and thinking differences in boys with dystrophinopathies. The study enrolls 110 children aged 5 to 12 who have a confirmed DMD diagnosis. Participants undergo sensory and neuropsychological tests to see if specific gene changes match particular patterns of cognitive, emotional, or behavioral challenges. The goal is to understand whether retinal or visual signs can serve as markers for the severity of these brain-related issues.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If researchers find a link between specific gene mutations and brain or vision problems, doctors could one day predict these issues earlier and tailor care for children with dystrophinopathies.
What could go wrong
This is an observational study, so it cannot prove cause and effect. The findings may not apply to all children with dystrophinopathies, and the results may take years to translate into better care.

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 110 people

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

Started

Sep 2026

Expected to finish

Mar 2031

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

DMD diagnosis confirmed by a genetic analysis

Ages

5 to 12 years

Sex

Anyone

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: * French citizenship, affiliated to the French Social Security, * 5 to 12 years old, * DMD diagnosis confirmed by a genetic analysis predicting breaking in the reading frame of the DMD gene with knowledge of the limits of the mutation, * Follow-up in a French referral or a skills center belonging to Filnemus. Exclusion Criteria: * Severe intellectual deficiency with IQ \< 55, and IQ \< 70 for the deep neurocognitive evaluation (executive and socio-cognitive evaluation), * Cataract except if operated (pseudophakic), * High intraocular pressure, * Cardiac dysfunction with left ventricular ejection fraction \< 35%, * Respiratory dysfunction with force vital capacity \< 70%, * Difficulties in fine motor skills with D3 MFM scale \< 75% * Treatment with methylphenidate: In case of hyperactive patients, the treatment will be transitorily interrupted the week before testing.

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Conditions

The condition(s) this trial relates to.

attention deficit hyperactivity disorder, inattentive type Cognition Disorders Duchenne muscular dystrophy neuromuscular disease caused by qualitative or quantitative defects of dystrophin pervasive developmental disorder

As listed by the trial registrant

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

Dystrophinopathies

How to take part

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  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

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Contacts and locations

Locations

  • Hôpital Necker Enfants Malades

    RECRUITING

    Paris, Île-de-France Region, 75015, France

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