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Recruiting Observational

Decoding Central Defects in Dystrophinopathies From Diagnostic to Remediation

NCT07125898 · tracked via the Priya Life Science France tracker
Phase
Observational
Started
2026-09-16
Last updated
2026-09-22

Condition(s) studied

Dystrophinopathies

Study summary

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

Eligibility

Sex
ALL
Min age
5 Years
Max age
12 Years
Healthy volunteers
No
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.

Primary outcome measure(s)

  • Nature and severity of sensory and neuropsychological disturbances — 12 Months
    Specify the nature and severity of sensory and neuropsychological disturbances (cognitive, executive, emotional, behavioral and neuropsychiatric) according to the patient's genotype.

Trial sites (1)

FacilityCityRegionStatus
Hôpital Necker Enfants Malades Paris Île-de-France Region Recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07125898 on ClinicalTrials.gov ↗ ← All trials in France