Decoding Central Defects in Dystrophinopathies From Diagnostic to Remediation
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Dystrophinopathies. Basic parameters: 5 years — 12 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Primary outcome measures
- Nature and severity of sensory and neuropsychological disturbances [Time frame: 12 Months]
Secondary outcome measures (3)
- Correlations between sensory and neuropsychological measures [Time frame: 24 Months]
- Correlation between neuropsychological and functional imaging parameters [Time frame: 24 Months]
- Correlation between sensory and functional imaging parameters [Time frame: 24 Months]
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 1 center
- Hôpital Necker Enfants Malades — Paris
Identifiers
NCT: NCT07125898 · APHP241376