- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01097564
COL4A1 Gene Related Cerebra-retinal Angiopathy (COL4A1)
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 Overview
Status
Conditions
Intervention / Treatment
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.
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
-
-
-
Paris, France, 75010
- Hôpital LARIBOISIERE Neurology Department
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
- patients children
- patients young adult
- family adult symptomatic
- family adult asymptomatic
Description
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
Study Plan
How is the study designed?
Design Details
- Observational Models: Case-Control
- Time Perspectives: Cross-Sectional
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
COL4A1 genetic testing
|
genetic testing
|
What is the study measuring?
Primary Outcome Measures
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.
Time Frame: at 36 months
|
at 36 months
|
Secondary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
To define the whole clinical, radiological and mutational spectrum of COL4A1 gene.
Time Frame: at 36 months
|
at 36 months
|
To define any genotype-phenotype correlation in COL4A1 gene disease.
Time Frame: at 36 months
|
at 36 months
|
Application of the results in daily clinical practice
Time Frame: at 36 months
|
at 36 months
|
Collaborators and Investigators
Collaborators
Investigators
- Principal Investigator: Hugues CHABRIAT, MD,PhD, Assistance Publique - Hôpitaux de Paris
Study record dates
Study Major Dates
Study Start
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Estimate)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Other Study ID Numbers
- P081214
- 2009-A01163-54 (Other Identifier: IDRCB)
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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