Understanding neurodevelopment in dystrophinopathies to guide personalized care

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study will enroll 5- to 12-year-old boys with dystrophinopathies to explore how genetic mutations relate to neurodevelopmental and neuropsychological profiles, including cognitive, behavioral, retinal, and brain imaging findings. A subset of participants will undergo a second phase over two years to develop and test targeted cognitive remediation aimed at improving socio-cognitive and executive functions. The work includes deep phenotyping through biomarker testing (e.g., ERG), detailed neuropsychological assessments, and functional brain imaging to map genotype–phenotype correlations. The study is conducted in France with Necker Enfants Malades as the lead site, under the French AP-HP umbrella, without specified interventional treatments in the initial phase.

Why it matters

Who can join: the full rules

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.

Where it's running

• Hôpital Necker Enfants Malades
  Paris, Île-de-France Region, France Recruiting

Study contacts

• Principal investigator: Isabelle DESGUERRE, MD, PhD — Hôpital Universitaire Necker - Enfants Malades
• Study coordinator: Isabelle DESGUERRE, MD, PhD
• Email: isabelle.desguerre@aphp.fr
• Phone: 01 44 49 48 56

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.