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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.
 
ClinicalTrials.gov Identifier: NCT01097564
Recruitment Status : Completed
First Posted : April 1, 2010
Last Update Posted : January 15, 2016
Sponsor:
Collaborator:
Ministry of Health, France
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

Tracking Information
First Submitted Date February 19, 2010
First Posted Date April 1, 2010
Last Update Posted Date January 15, 2016
Study Start Date February 2010
Actual Primary Completion Date March 2015   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: March 31, 2010)
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 ]
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures
 (submitted: March 31, 2010)
  • 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 ]
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title COL4A1 Gene Related Cerebra-retinal Angiopathy
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
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.

Study Type Observational
Study Design Observational Model: Case-Control
Time Perspective: Cross-Sectional
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population
  • patients children
  • patients young adult
  • family adult symptomatic
  • family adult asymptomatic
Condition Cerebra-retinal Angiopathy
Intervention Genetic: COL4A1 genetic testing
genetic testing
Study Groups/Cohorts COL4A1 genetic testing
COL4A1 genetic testing
Intervention: Genetic: COL4A1 genetic testing
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: January 14, 2016)
132
Original Estimated Enrollment
 (submitted: March 31, 2010)
250
Actual Study Completion Date March 2015
Actual Primary Completion Date March 2015   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers Yes
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT01097564
Other Study ID Numbers P081214
2009-A01163-54 ( Other Identifier: IDRCB )
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Assistance Publique - Hôpitaux de Paris
Study Sponsor Assistance Publique - Hôpitaux de Paris
Collaborators Ministry of Health, France
Investigators
Principal Investigator: Hugues CHABRIAT, MD,PhD Assistance Publique - Hôpitaux de Paris
PRS Account Assistance Publique - Hôpitaux de Paris
Verification Date January 2016