NCT07125898

Decoding Central Defects in Dystrophinopathies From Diagnostic to Remediation

• Status: Not Yet Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 110 (estimated)
• Sponsor: Assistance Publique - Hôpitaux de Paris · Academic / Other
• Sex: All
• Age: 5 Years – 12 Years
• Healthy volunteers: Not accepted

Summary

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

Detailed description

We propose a unique longitudinal study in which DMD children aged 5-12 years old will first be engaged in a deep evaluation of a range of cognitive, behavioral, physiological and neural functions (identification of biomarkers based on ERG) and an eligible subgroup of patients will then enter a second study phase (last 2 years) aimed at developing targeted cognitive remediation strategies: 1. Deep evaluation with research of correlation between DMD patients' genotype and neurological/neuropsychological phenotype: - the nature and severity of the cognitive/executive/behavioral deficits, - the retinal/visual alterations, - functional brain imaging. 2. Targeted cognitive remediation strategies in the same patients, to alleviate the identified neuropsychological and behavioral disturbances. We will place a particular focus on the socio-cognitive and executive weaknesse.

Conditions

• Dystrophinopathies

Timeline

• Start date: 2025-10-01
• Primary completion: 2027-10-01
• Completion: 2029-04-01
• First posted: 2025-08-15
• Last updated: 2025-08-15

Locations

1 site across 1 country: France