CompletedNot Applicable

COL4A1 Gene Related Cerebra-retinal Angiopathy

France132 participantsStarted 2010-02

Plain-language summary

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

Who can participate

SexALL

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Inclusion Criteria: Inclusion criteria for the index patient : * 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) Exclusion criteria: (for the index patient) * Hypertension * Diabetes * Other (than COL4A1) genetic small vessel diseases of the brain

What they're measuring

Implication of COL4A1 gene (and other related genes) in intracranial haemorrhages of unknown etiology in children and young adults and in brain diffuse small vessel diseases of unknown etiology in young adults.

Timeframe: at 36 months

Trial details

NCT IDNCT01097564

SponsorAssistance Publique - Hôpitaux de Paris

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2015-03

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