COL4A1 Gene Related Cerebra-retinal Angiopathy | NCT01097564

Studies
COL4A1 Gene Related Cerebra-retinal Angiopathy

NCT01097564

Sponsor

Assistance Publique - Hôpitaux de Paris

Status

Completed

Last Update Posted

Jan 15, 2016Estimated

Enrollment

132Actual

Phase

Not provided

Conditions

Cerebra-retinal Angiopathy

Interventions

COL4A1 genetic testing

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
2009-A01163-54	Other Identifier	IDRCB

Status Module

Record Verification Date

Jan 2016

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Feb 2010

Primary Completion Date

Mar 2015Actual

Completion Date

Mar 2015Actual

First Submitted Date

Feb 19, 2010

First Submission Date that Met QC Criteria

Mar 31, 2010

First Posted Date

Apr 1, 2010Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jan 14, 2016

Last Update Posted Date

Jan 15, 2016Estimated

Name	Class
Ministry of Health, France	OTHER_GOV

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

132Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
COL4A1 genetic testing		COL4A1 genetic testing	Genetic: COL4A1 genetic testing

Interventions

Name	Type	Description	Arm Group Labels	Other Names
COL4A1 genetic testing	Genetic	genetic testing	COL4A1 genetic testing

Outcomes Module

Primary Outcomes

Measure	Description	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.		at 36 months

Secondary Outcomes

Measure	Description	Time Frame
To define the whole clinical, radiological and mutational spectrum of COL4A1 gene.		at 36 months
To define any genotype-phenotype correlation in COL4A1 gene disease.		at 36 months

Other Outcomes

Not provided

Eligibility Module

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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

patients children
patients young adult
family adult symptomatic
family adult asymptomatic

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Hugues CHABRIAT, MD,PhD	Assistance Publique - Hôpitaux de Paris	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Hôpital LARIBOISIERE Neurology Department		Paris		75010	France

Condition Browse Module

MeSH Terms

ID	Term
D002547	Cerebral Palsy
D065708	Porencephaly
D056784	Leukoencephalopathies

Ancestor Terms

ID	Term
D001925	Brain Damage, Chronic
D001927	Brain Diseases
D002493	Central Nervous System Diseases
D009422	Nervous System Diseases

Browse Leaves

Not provided

Browse Branches

Not provided