Cerebra-retinal AngiopathyCOL4A1NCT01097564
COL4A1 Gene Related Cerebra-retinal Angiopathy
An observational study of Cerebra-retinal Angiopathy, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
This prospective multicenter cohort study aims to define the clinical, radiological and mutational spectrum of the disease related to COL4A1 gene. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Cerebra-retinal Angiopathy
- What is being tested?
- COL4A1 genetic testing
- How many people
- 132 participants
- Where
- 1 siteFrance
- Study dates
- Feb 2010to Mar 2015
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: * patients children * patients young adult * family adult symptomatic * family adult asymptomatic
Who may be able to join
- 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)
Who cannot join
- (for the index patient)
- Hypertension
- Diabetes
- Other (than COL4A1) genetic small vessel diseases of the brain
Trial locations and contacts
1 site in 1 country.
About this study
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
This prospective multicenter cohort study aims to define the clinical, radiological and mutational spectrum of the disease related to COL4A1 gene.
Read the 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.
- Conditions
- Cerebra-retinal Angiopathy
- Being tested
- COL4A1 genetic testing
- Keywords
- Genetic, Cerebral angiopathy, Retinal angiopathy, COL4A1 gene, Infantile Cerebral Palsy, Congenital porencephaly, Congenital cataract, Leukoencephalopathy, COL4A1 gene related cerebra-retinal angiopathy
- Medical subject headings
- Cerebral Palsy, Porencephaly, Leukoencephalopathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
COL4A1 genetic testingGenetic
genetic testing
| Study group | Role | What they receive |
|---|---|---|
| COL4A1 genetic testing | COL4A1 genetic testing Receives: Genetic: COL4A1 genetic testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: at 36 months
Secondary outcomes (3)
To define the whole clinical, radiological and mutational spectrum of COL4A1 gene.
Measured: at 36 months
To define any genotype-phenotype correlation in COL4A1 gene disease.
Measured: at 36 months
Application of the results in daily clinical practice
Measured: at 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Apr 2010 (estimated)
- Study startFeb 2010
- Primary completionMar 2015
- Study completionMar 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cerebra-retinal AngiopathyStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 132 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- Ministry of Health, France
- Responsible party
- Sponsor
- Investigators
- Hugues CHABRIAT, MD,PhD, Principal investigator, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01097564
- Sponsor's protocol ID
- P081214
- Other IDs
- 2009-A01163-54
- Acronym
- COL4A1
- Status last verified
- Jan 2016
- First submitted
- 19 Feb 2010
- Last updated
- 15 Jan 2016
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Jan 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT01097564
- Acronym / sponsor ID
- COL4A1 / P081214
- Conditions
- Cerebra-retinal Angiopathy
- Keywords
- Genetic, Cerebral angiopathy, Retinal angiopathy, COL4A1 gene, Infantile Cerebral Palsy, Congenital porencephaly, Congenital cataract, Leukoencephalopathy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 132 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- Ministry of Health, France
- Study start
- Feb 2010
- Primary completion
- Mar 2015 (actual)
- Study completion
- Mar 2015 (actual)
- First posted
- 1 Apr 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| COL4A1 genetic testing | – | Genetic: COL4A1 genetic testingCOL4A1 genetic testing |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- * patients children * patients young adult * family adult symptomatic * family adult asymptomatic
Key inclusion criteria (4 listed)
- 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)
Key exclusion criteria (4 listed)
- (for the index patient)
- Hypertension
- Diabetes
- Other (than COL4A1) genetic small vessel diseases of the brain
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| COL4A1 genetic testinggenetic testing | Genetic | COL4A1 genetic testing |
Primary outcome
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
3 secondary outcomes
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Jan 2016.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Hugues CHABRIAT, MD,PhD principal investigator
Assistance Publique - Hôpitaux de Paris
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cerebra-retinal Angiopathy, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 15 Jan 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the 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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Jan 2016.