COL4A1 Gene Related Cerebra-retinal Angiopathy

Assistance Publique - Hôpitaux de Paris

Status: Completed

Conditions: Cerebra-retinal Angiopathy

Treatments: Genetic: COL4A1 genetic testing

Study type: Observational

Funder types: Other

Identifiers

NCT01097564

2009-A01163-54 (Other Identifier)

P081214

Details and patient eligibility

About

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

Full 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.

Enrollment: 132 patients

Sex: All

Volunteers: Accepts Healthy Volunteers

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

Trial design

132 participants in 1 patient group

COL4A1 genetic testing

Description:

COL4A1 genetic testing

Treatment:

Genetic: COL4A1 genetic testing