Health TrialsbyHealthPanel

Decoding Central Defects in Dystrophinopathies From Diagnostic to Remediation

ConditionDystrophinopathies
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age5-12
SponsorAssistance Publique - Hôpitaux de Paris

About this trial

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

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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.

Disqualifiers

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%,

Trial population

DMD diagnosis confirmed by a genetic analysis

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

110 Participants
are grouped into 2 trial groups
Group A: Group 1: PHASE 1
Group B: Group 2: PHASE 2

Trial outcomes

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.

Time frame
12 Months

Secondary outcomes

1

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
2

Correlation between neuropsychological and functional imaging parameters

Analyze correlation between neuropsychological and functional imaging parameters.

Time frame
24 Months
3

Correlation between sensory and functional imaging parameters

Analyze correlation between sensory and functional imaging parameters.

Time frame
24 Months

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Assistance Publique - Hôpitaux de Paris

Lead sponsor

Source ClinicalTrials.gov
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