Decoding Central Defects in Dystrophinopathies From Diagnostic to Remediation

Assistance Publique - Hôpitaux de Paris110 enrolled

Overview

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

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.

Study Type

OBSERVATIONAL

Enrollment

110

Conditions

Dystrophinopathies

Eligibility

Sex: ALLMin age: 5 YearsMax age: 12 Years

Medical Language ↔ Plain English

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.

Locations (1)

Hôpital Necker Enfants Malades

Paris, Île-de-France Region, France

RECRUITING

Outcomes

Primary Outcomes

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.

Time frame: 12 Months

Secondary Outcomes

Correlations between sensory and neuropsychological measures

Analyze the correlations between sensory (retinal/visual) and neuropsychological measures, in order to determine if retinal defects represent a signature of neuropsychological impairment severity.

Time frame: 24 Months

Correlation between neuropsychological and functional imaging parameters

Analyze correlation between neuropsychological and functional imaging parameters.

Time frame: 24 Months

Correlation between sensory and functional imaging parameters

Analyze correlation between sensory and functional imaging parameters.

Time frame: 24 Months

Central 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

Data from ClinicalTrials.gov

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