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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01097564

Acronym

COL4A1

Enrollment

132

Registered

2010-04-01

Start date

2010-02-28

Completion date

2015-03-31

Last updated

2016-01-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Cerebra-retinal Angiopathy

Keywords

Genetic, Cerebral angiopathy, Retinal angiopathy, COL4A1 gene, Infantile Cerebral Palsy, Congenital porencephaly, Congenital cataract, Leukoencephalopathy, COL4A1 gene related cerebra-retinal angiopathy

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.

Interventions

GENETICCOL4A1 genetic testing

genetic testing

Study design

Observational model

CASE_CONTROL

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Healthy volunteers

Yes

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

Design outcomes

Primary

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

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

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026