Decoding Central Defects in Dystrophinopathies From Diagnostic to Remediation (DECODYS)

Assistance Publique - Hôpitaux de Paris

Status: Not yet enrolling

Conditions: Dystrophinopathies

Study type: Observational

Funder types: Other

Identifiers

NCT07125898

APHP241376

Details and patient eligibility

About

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

Full 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.

Enrollment: 110 estimated patients

Sex: All

Ages: 5 to 12 years old

Volunteers: No Healthy Volunteers

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.

Trial design

110 participants in 2 patient groups

Group 1: PHASE 1

Description:

DMD diagnosis confirmed by a genetic analysis

Group 2: PHASE 2

Description:

DMD diagnosis confirmed whose neuropsychological data are eligible for remediation