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COL4A1 Gene Related Cerebra-retinal Angiopathy (COL4A1)

This study has been completed.
Ministry of Health, France
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris Identifier:
First received: February 19, 2010
Last updated: January 14, 2016
Last verified: January 2016
This prospective multicenter cohort study aims to define the clinical, radiological and mutational spectrum of the disease related to COL4A1 gene.

Condition Intervention
Cerebra-retinal Angiopathy
Genetic: COL4A1 genetic testing

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: 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

Resource links provided by NLM:

Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • 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. [ Time Frame: at 36 months ]

Secondary Outcome Measures:
  • To define the whole clinical, radiological and mutational spectrum of COL4A1 gene. [ Time Frame: at 36 months ]
  • To define any genotype-phenotype correlation in COL4A1 gene disease. [ Time Frame: at 36 months ]
  • Application of the results in daily clinical practice [ Time Frame: at 36 months ]

Enrollment: 132
Study Start Date: February 2010
Study Completion Date: March 2015
Primary Completion Date: March 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
COL4A1 genetic testing
COL4A1 genetic testing
Genetic: COL4A1 genetic testing
genetic testing

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.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
  • patients children
  • patients young adult
  • family adult symptomatic
  • family adult asymptomatic

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
  Contacts and Locations
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Please refer to this study by its identifier: NCT01097564

Hôpital LARIBOISIERE Neurology Department
Paris, France, 75010
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Ministry of Health, France
Principal Investigator: Hugues CHABRIAT, MD,PhD Assistance Publique - Hôpitaux de Paris
  More Information

Responsible Party: Assistance Publique - Hôpitaux de Paris Identifier: NCT01097564     History of Changes
Other Study ID Numbers: P081214
2009-A01163-54 ( Other Identifier: IDRCB )
Study First Received: February 19, 2010
Last Updated: January 14, 2016

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Cerebral angiopathy
Retinal angiopathy
COL4A1 gene
Infantile Cerebral Palsy
Congenital porencephaly
Congenital cataract
COL4A1 gene related cerebra-retinal angiopathy processed this record on May 24, 2017