Not yet recruitingOBSERVATIONAL

Decoding Central Defects in Dystrophinopathies From Diagnostic to Remediation

This study aims to understand how Duchenne muscular dystrophy (DMD) affects thinking, learning, and social skills in children aged 5 to 12. Researchers believe that by looking closely at brain function, behaviour, eyesight, and genetics, they can find specific patterns. The project has two main parts. First, they will do detailed checks on these areas. Then, for a selected group of children, they will test special activities and strategies designed to help improve any difficulties they find, especially with social understanding and problem-solving. The goal is to better connect known genetic changes with how DMD shows up in a child's development and to find new ways to support them.

At a glance

Status

Not yet recruiting

Sponsor

Assistance Publique - Hôpitaux de Paris

Enrolment target

110

Start

01 Oct 2025

Estimated completion

01 Apr 2029

Dystrophinopathies

What is this study about?

This study is about understanding how Duchenne muscular dystrophy (DMD) can affect a child's brain development, thinking skills, and behaviour. It's a common misunderstanding that DMD only affects muscles, but it can also have an impact on how children learn and interact with the world around them. This research wants to explore these effects in children aged 5 to 12.

The researchers will carefully examine different aspects of a child's development, including their thinking abilities, how they behave, and their eyesight. They will also look at how their brain works using special scans. By doing this, they hope to find clear links between a child's specific genetic changes in DMD and any difficulties they might experience with learning or social skills. This information could help doctors understand each child's needs better.

After this detailed check, some children will then take part in a second stage of the study. This part focuses on trying out special activities and strategies designed to help improve any challenges identified. The researchers are particularly interested in helping with social skills and executive functions – these are the skills we use for planning, paying attention, and solving problems. Ultimately, this study aims to develop better ways to support children with DMD and improve their quality of life.

Key takeaways

This study explores how Duchenne muscular dystrophy (DMD) affects brain development, thinking, and social skills.
It involves detailed assessments of a child's thinking, behaviour, eyesight, and brain function.
Some children will try out special activities to help improve identified difficulties.
The study aims to link genetic changes in DMD to developmental challenges.
The second phase of the study, for eligible children, will last two years.
Participation will help researchers find better ways to support children with DMD.

Who may be eligible?

To be considered for this study, children need to be between 5 and 12 years old and live in France, covered by the French health system. They must have a clear diagnosis of Duchenne muscular dystrophy (DMD) that has been confirmed by a genetic test, and their care needs to be managed by a specific French specialist centre.

There are also some reasons why a child might not be able to join. For instance, if they have a very severe learning difficulty (with an IQ below 55), or if their IQ is below 70 for the more detailed parts of the study. Children with certain eye conditions like cataracts (unless they've had surgery) or high pressure in the eye, or significant heart or breathing problems, also wouldn't be able to participate.

Additionally, if a child struggles a lot with fine motor skills (like using their hands for detailed tasks) or is taking a specific medication called methylphenidate, they might not be eligible. If they are on methylphenidate, it would need to be paused for a week before some tests.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Is your child aged between 5 and 12 years old?
Does your child have a confirmed diagnosis of Duchenne muscular dystrophy (DMD)?
Does your child currently receive care at a specialist centre connected to Filnemus in France?
Does your child have an IQ above 70 for detailed cognitive tests (or above 55 generally)?
Does your child have cataracts (unless they've had surgery), high eye pressure, or severe heart/breathing problems?

Answer every question to see your result.

What does participation involve?

If your child takes part, they will first go through a detailed assessment. This involves looking at their thinking skills, behaviour, eyesight, and possibly having brain scans. We don't have details on how many visits this would involve or how long each visit would take, but these assessments are usually spread out to make sure children don't get too tired.

Some children, after these initial checks, will then move to a second part of the study. This phase will involve trying out specific activities designed to help with thinking and social skills. This second part is planned to last for two years. Throughout the study, your child's medical team will continue to manage their care as usual. There is no mention of new medication being given as part of this study.

Potential risks and benefits

Taking part in this study could offer several potential benefits. It might help us understand more about how Duchenne muscular dystrophy affects a child's development, which could lead to better support and strategies in the future. Children participating might also get more detailed assessments than usual and could benefit from the targeted activities designed to help with thinking and social skills. As with any study, there could be some minor risks, such as fatigue from assessments or needing to temporarily stop a medication (methylphenidate) if applicable. You have the right to withdraw your child from the study at any time without giving a reason, and this would not affect their regular medical care.

Locations (1)

Hôpital Necker Enfants Malades
Verified postcode
Paris, France

Common questions

What is Dystrophinopathies?

Dystrophinopathies is a group of muscle diseases, with Duchenne muscular dystrophy (DMD) being the most common and severe type. It causes muscles to weaken over time.

What does 'neurodevelopmental disorders' mean?

It means conditions that affect how the brain develops, which can impact learning, thinking, social skills, and emotions.

Will my child receive new medication in this study?

No, this study does not involve giving new medications. It focuses on understanding and trying out learning strategies.

How long will the study last?

The initial assessments are not specified, but the second phase, which involves targeted activities, will last for two years for eligible children.

What does 'genotype/phenotype correlation' mean?

It means looking at the link between a child's specific genetic make-up (genotype) and the way their condition shows up or affects them (phenotype), such as their learning or behaviour.

How to find out more

Isabelle DESGUERRE, MD, PhD

isabelle.desguerre@aphp.fr 01 44 49 48 56 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.