Decoding Central Defects in Dystrophinopathies From Diagnostic to Remediation

NCT ID: NCT07125898

Last Updated: 2025-08-15

Basic Information

• Recruitment Status: NOT_YET_RECRUITING
• Total Enrollment: 110 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2025-10-01
• Study Completion Date: 2029-04-01

Brief 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

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Group 1: PHASE 1

DMD diagnosis confirmed by a genetic analysis

No interventions assigned to this group

Group 2: PHASE 2

DMD diagnosis confirmed whose neuropsychological data are eligible for remediation

No interventions assigned to this group

Eligibility Criteria

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.

• Minimum Eligible Age: 5 Years
• Maximum Eligible Age: 12 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Isabelle DESGUERRE, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Hôpital Universitaire Necker - Enfants Malades

Locations

Hôpital Necker Enfants Malades

Paris, Île-de-France Region, France

Countries

France

Central Contacts

Isabelle DESGUERRE, MD, PhD

Role: CONTACT

isabelle.desguerre@aphp.fr

01 44 49 48 56 ext. +33

Aminata TRAORE, Project manager

Role: CONTACT

aminata.traore6@aphp.fr

01 42 19 27 34 ext. +33

Facility Contacts

Isabelle DESGUERRE, MD, PhD

Role: primary

isabelle.desguerre@aphp.fr

01 44 49 48 56 ext. +33

Aminata TRAORE, Project advisor

Role: backup

Aminata.traore6@aphp.fr

01 42 19 27 34 ext. +33

Other Identifiers

APHP241376

Identifier Type: -

Identifier Source: org_study_id