COL4A1 Gene Related Cerebra-retinal Angiopathy

Completed

• Conditions: Cerebra-retinal Angiopathy
• Interventions: Genetic: COL4A1 genetic testing

• Registration Number: NCT01097564
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

Brief Summary

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

Detailed Description

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.

Study Timeline

• Study Start: 2010-02
• Study First Submitted: 2010-02-19
• Study First Submitted QC: 2010-03-31
• Study First Posted: 2010-04-01
• Primary Completion: 2015-03
• Study Completion: 2015-03
• Status Verified: 2016-01
• Last Update Submitted: 2016-01-14
• Last Update Posted: 2016-01-15

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 132

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

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Exclusion Criteria

Not provided

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
COL4A1 genetic testing	COL4A1 genetic testing	COL4A1 genetic testing

Primary Outcome Measures

Name	Time	Method
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.	at 36 months

Secondary Outcome Measures

Name	Time	Method
To define any genotype-phenotype correlation in COL4A1 gene disease.	at 36 months
Application of the results in daily clinical practice	at 36 months
To define the whole clinical, radiological and mutational spectrum of COL4A1 gene.	at 36 months

Trial Locations

Locations (1)

Hôpital LARIBOISIERE Neurology Department; 🇫🇷 Paris, France