COL4A1 Gene Related Cerebra-retinal Angiopathy

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

132 participants

Study Classification

OBSERVATIONAL

Study Start Date

2010-02-28

Study Completion Date

2015-03-31

Brief Summary

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This prospective multicenter cohort study aims to define the clinical, radiological and mutational spectrum of the disease related to COL4A1 gene.

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Detailed Description

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150 index patients (children or young adult) will be prospectively recruited over three years according to eligibility criteria. Relatives will be also recruited.

Clinical, brain MRI-MRA and genetic testing (COL4A1 mutation screening) will be conducted for each included patient or asymptomatic relatives. 13 French investigating centres will be participating to the study.

Conditions

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Cerebra-retinal Angiopathy

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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COL4A1 genetic testing

Intervention Type GENETIC

genetic testing

Interventions

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COL4A1 genetic testing

genetic testing

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* Children and young adult (\< 65 years)
* Intracranial hemorrhage of unknown etiology
* leukoencephalopathy
* Any associated signs (including retinal arteriolar tortuosity, intracranial aneurysm, porencephaly, Infantile Cerebral Palsy, juvenile cataract)