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COL4A1 Gene Related Cerebra-retinal Angiopathy (COL4A1)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01097564
Recruitment Status : Completed
First Posted : April 1, 2010
Last Update Posted : January 15, 2016
Ministry of Health, France
Information provided by (Responsible Party):
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.

Condition or disease Intervention/treatment
Cerebra-retinal Angiopathy Genetic: COL4A1 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.

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Study Type : Observational
Actual Enrollment : 132 participants
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
Study Start Date : February 2010
Actual Primary Completion Date : March 2015
Actual Study Completion Date : March 2015

Resource links provided by the National Library of Medicine

Group/Cohort Intervention/treatment
COL4A1 genetic testing
COL4A1 genetic testing
Genetic: COL4A1 genetic testing
genetic testing

Primary Outcome Measures :
  1. 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 :
  1. To define the whole clinical, radiological and mutational spectrum of COL4A1 gene. [ Time Frame: at 36 months ]
  2. To define any genotype-phenotype correlation in COL4A1 gene disease. [ Time Frame: at 36 months ]
  3. Application of the results in daily clinical practice [ Time Frame: at 36 months ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01097564

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Hôpital LARIBOISIERE Neurology Department
Paris, France, 75010
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Ministry of Health, France
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Principal Investigator: Hugues CHABRIAT, MD,PhD Assistance Publique - Hôpitaux de Paris
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Responsible Party: Assistance Publique - Hôpitaux de Paris Identifier: NCT01097564    
Other Study ID Numbers: P081214
2009-A01163-54 ( Other Identifier: IDRCB )
First Posted: April 1, 2010    Key Record Dates
Last Update Posted: January 15, 2016
Last Verified: January 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