COL4A1 Gene Related Cerebra-retinal Angiopathy

COL4A1 Gene Related Cerebra-retinal Angiopathy : Clinical Spectrum From Children to Adult, Mutational Spectrum and Application to Routine Management of Affected Patients : a Prospective Cohort Study


Lead Sponsor: Assistance Publique - Hôpitaux de Paris

Collaborator: Ministry of Health, France

Source 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.

Overall Status Completed
Start Date February 2010
Completion Date March 2015
Primary Completion Date March 2015
Study Type Observational
Primary Outcome
Measure Time Frame
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
Measure Time Frame
To define the whole clinical, radiological and mutational spectrum of COL4A1 gene. at 36 months
To define any genotype-phenotype correlation in COL4A1 gene disease. at 36 months
Application of the results in daily clinical practice at 36 months
Enrollment 132

Intervention Type: Genetic

Intervention Name: COL4A1 genetic testing

Description: genetic testing

Arm Group Label: COL4A1 genetic testing


Sampling Method: Non-Probability Sample


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

Gender: All

Minimum Age: N/A

Maximum Age: N/A

Healthy Volunteers: Accepts Healthy Volunteers

Overall Official
Last Name Role Affiliation
Hugues CHABRIAT, MD,PhD Principal Investigator Assistance Publique - Hôpitaux de Paris
Facility: Hôpital LARIBOISIERE Neurology Department
Location Countries


Verification Date

January 2016

Responsible Party

Type: Sponsor

Has Expanded Access No
Arm Group

Label: COL4A1 genetic testing

Description: COL4A1 genetic testing

Acronym COL4A1
Study Design Info

Observational Model: Case-Control

Time Perspective: Cross-Sectional