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COL4A1 Gene Related Cerebra-retinal Angiopathy (COL4A1)

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01097564
First Posted: April 1, 2010
Last Update Posted: January 15, 2016
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.
Collaborator:
Ministry of Health, France
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
February 19, 2010
April 1, 2010
January 15, 2016
February 2010
March 2015   (Final data collection date for primary outcome measure)
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 ]
Same as current
Complete list of historical versions of study NCT01097564 on ClinicalTrials.gov Archive Site
  • 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 ]
Same as current
Not Provided
Not Provided
 
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
This prospective multicenter cohort study aims to define the clinical, radiological and mutational spectrum of the disease related to COL4A1 gene.

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.

Observational
Observational Model: Case Control
Time Perspective: Cross-Sectional
Not Provided
Not Provided
Non-Probability Sample
  • patients children
  • patients young adult
  • family adult symptomatic
  • family adult asymptomatic
Cerebra-retinal Angiopathy
Genetic: COL4A1 genetic testing
genetic testing
COL4A1 genetic testing
COL4A1 genetic testing
Intervention: Genetic: COL4A1 genetic testing
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
132
March 2015
March 2015   (Final data collection date for primary outcome measure)

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
Sexes Eligible for Study: All
Child, Adult, Senior
Yes
Contact information is only displayed when the study is recruiting subjects
France
 
 
NCT01097564
P081214
2009-A01163-54 ( Other Identifier: IDRCB )
No
Not Provided
Not Provided
Assistance Publique - Hôpitaux de Paris
Assistance Publique - Hôpitaux de Paris
Ministry of Health, France
Principal Investigator: Hugues CHABRIAT, MD,PhD Assistance Publique - Hôpitaux de Paris
Assistance Publique - Hôpitaux de Paris
January 2016