Decoding Central Defects in Dystrophinopathies From Diagnostic to Remediation

NCT07125898 | Not Yet Recruiting

• 1 other identifier: APHP241376
• Study Type: observational
• Target: 110
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Dystrophinopathies

Keywords

Cognitive deficits; Autism-spectrum disorders; Attention deficit hyperactivity Disorder

Outcome Measures

Primary Outcomes (1)

• Nature and severity of sensory and neuropsychological disturbances

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

  12 Months

Secondary Outcomes (3)

• Correlations between sensory and neuropsychological measures

  24 Months

• Correlation between neuropsychological and functional imaging parameters

  24 Months

• Correlation between sensory and functional imaging parameters

  24 Months

Study Arms (2)

Group 1: PHASE 1

DMD diagnosis confirmed by a genetic analysis

Group 2: PHASE 2

DMD diagnosis confirmed whose neuropsychological data are eligible for remediation

Eligibility Criteria

• Age: 5 Years - 12 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

DMD diagnosis confirmed by a genetic analysis

You may qualify if:

• French citizenship, affiliated to the French Social Security,
• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Hôpital Necker Enfants Malades

Paris, Île-de-France Region, 75015, France

Location

MeSH Terms

Conditions

Cognition Disorders; Child Development Disorders, Pervasive; Attention Deficit Disorder with Hyperactivity

Condition Hierarchy (Ancestors)

Neurocognitive Disorders; Mental Disorders; Neurodevelopmental Disorders; Attention Deficit and Disruptive Behavior Disorders

Study Officials

• Isabelle DESGUERRE, MD, PhD

  Hôpital Universitaire Necker - Enfants Malades

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Isabelle DESGUERRE, MD, PhD

CONTACT

01 44 49 48 56; isabelle.desguerre@aphp.fr

Aminata TRAORE, Project manager

CONTACT

01 42 19 27 34; aminata.traore6@aphp.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 11, 2025
• First Posted: August 15, 2025
• Study Start: October 1, 2025
• Primary Completion (Estimated): October 1, 2027
• Study Completion (Estimated): April 1, 2029
• Last Updated: August 15, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)