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Decoding Central Defects in Dystrophinopathies From Diagnostic to Remediation

Recruitingn/aAges 5 Years - 12 YearsAllAssistance Publique - Hôpitaux de Paris
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In plain words

What the trial is, and whether it could suit you

The study aims to identify a genotype/phenotype correlation by analyzing more finely the neurodevelopmental disorders in DMD patients.

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📋 Eligibility rules (as published)
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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What it tests

  • Not listed
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Where

1 site
Hôpital Necker Enfants Malades
Paris, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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