Bicuspid Aortic ValveNCT02899624
Whole Exome Sequencing in Bicuspid Aortic Valve Patients
A study testing Extra blood draw samples and additional tissue samples in people with Bicuspid Aortic Valve, run by Assistance Publique Hopitaux De Marseille at 1 site in France.
Trial summary
Bicuspid aortic valve (BAV), congenital anomaly present in 2% of the population, is defined by the presence of two sigmoid valves instead of three. It is conventionally associated with histological abnormalities of the wall of the ascending aorta, risk factors of aortic dystrophy observed in 50% of cases, and… Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Bicuspid Aortic Valve
- What is being tested?
- Extra blood draw samples and additional tissue samples
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 427 participants
- Where
- 1 siteFrance
- Study dates
- Jan 2014to Jan 2018
- Phase
- Interventional
- 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 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- bicuspid aortic valve, confirmed by transthoracic or transesophageal echocardiography
- With or without an aneurysm of the ascending thoracic aorta nonsyndromic
Who cannot join
- aortic syndromic pathology
- antecedent of acute articular rhumatism
Trial locations and contacts
1 site in 1 country.
Jean François Avierinos contact
France1 site, 1 recruiting
- Recruiting
Assistance Publique Hôpitaux de Marseille
Marseille, 13005
Jean-François Avierinos, jean-francois.avierinos@ap-hm.fr
About this study
Bicuspid aortic valve (BAV), congenital anomaly present in 2% of the population, is defined by the presence of two sigmoid valves instead of three. It is conventionally associated with histological abnormalities of the wall of the ascending aorta, risk factors of aortic dystrophy observed in 50% of cases, and dissection. Long considered an accident of development, the discovery of mutations in the NOTCH1 gene in 2 families alternating BAV and aortic dystrophy suggests the existence of a genetic predisposition and a common genetic origin for these two pathologies.
Data on the genetic basis of the BAV are still limited, but the existence of a large phenotypic diversity suggests the involvement of other genes. The establishment of large collections of DNA will allow great advances in this field.
The purpose of this project is to confirm the existence of a genetic determinism at the origin of the BAV with or without dystrophy of non syndromic ascending aorta, identifying genetic defects associated with the presence of a BAV in a series of candidate genes.
- Conditions
- Bicuspid Aortic Valve
- Being tested
- Extra blood draw samples, additional tissue samples
- Medical subject headings
- Bicuspid Aortic Valve Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Extra blood draw samplesBiological
additional tissue samplesBiological
| Study group | Role | What they receive |
|---|---|---|
| Bicuspid aortic valve (BAV) | Experimental | patient with bicuspid aortic valve Receives: Biological: Extra blood draw samples; Biological: additional tissue samples |
| healthy subjects related patients with BAV | Active comparator | healthy control, related to patient with bicuspid aortic valve, at the 1st, 2nd or 3rd degree Receives: Biological: Extra blood draw samples |
| Tricuspid aortic valve (TAV) | Active comparator | patient with aortic stenosis on tricuspid valve Receives: Biological: additional tissue samples |
What is being measured
The primary outcome is the main question the study is designed to answer.
number of genetic abnormalities
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Sep 2016 (estimated)
- Study startJan 2014
- Primary completionJan 2017 (estimated)
- Study completionJan 2018 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Bicuspid Aortic ValveStudies of the same condition, open and under way.
- More trials run by Assistance Publique Hopitaux De MarseilleThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Prevention
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 427 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique Hopitaux De Marseille
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Urielle Desalbres, Study director, Assistance Publique Hôpitaux de Marseille
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02899624
- Sponsor's protocol ID
- 2013-09
- Status last verified
- Sep 2016
- First submitted
- 9 Sep 2016
- Last updated
- 14 Sep 2016
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Sep 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Whole Exome Sequencing in Bicuspid Aortic Valve Patients
- ClinicalTrials.gov ID
- NCT02899624
- Acronym / sponsor ID
- 2013-09
- Conditions
- Bicuspid Aortic Valve
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 427 participants (estimated)
- Lead sponsor
- Assistance Publique Hopitaux De MarseilleUniversity, hospital or other
- Study start
- Jan 2014
- Primary completion
- Jan 2017 (estimated)
- Study completion
- Jan 2018 (estimated)
- First posted
- 14 Sep 2016 (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.
Bicuspid aortic valve (BAV), congenital anomaly present in 2% of the population, is defined by the presence of two sigmoid valves instead of three. It is conventionally associated with histological abnormalities of the wall of the ascending aorta, risk factors of aortic dystrophy observed in 50% of cases, and dissection. Long considered an accident of development, the discovery of mutations in the NOTCH1 gene in 2 families alternating BAV and aortic dystrophy suggests the existence of a genetic predisposition and a common genetic origin for these two pathologies.
Data on the genetic basis of the BAV are still limited, but the existence of a large phenotypic diversity suggests the involvement of other genes. The establishment of large collections of DNA will allow great advances in this field.
The purpose of this project is to confirm the existence of a genetic determinism at the origin of the BAV with or without dystrophy of non syndromic ascending aorta, identifying genetic defects associated with the presence of a BAV in a series of candidate genes.
Study design
- Primary purpose
- Prevention
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Bicuspid aortic valve (BAV) | Experimental | Biological: Extra blood draw samples, Biological: additional tissue samplespatient with bicuspid aortic valve |
| healthy subjects related patients with BAV | Active comparator | Biological: Extra blood draw sampleshealthy control, related to patient with bicuspid aortic valve, at the 1st, 2nd or 3rd degree |
| Tricuspid aortic valve (TAV) | Active comparator | Biological: additional tissue samplespatient with aortic stenosis on tricuspid valve |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (2 listed)
- bicuspid aortic valve, confirmed by transthoracic or transesophageal echocardiography
- With or without an aneurysm of the ascending thoracic aorta nonsyndromic
Key exclusion criteria (2 listed)
- aortic syndromic pathology
- antecedent of acute articular rhumatism
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 |
|---|---|---|
| Extra blood draw samples | Biological | Bicuspid aortic valve (BAV), healthy subjects related patients with BAV |
| additional tissue samples | Biological | Bicuspid aortic valve (BAV), Tricuspid aortic valve (TAV) |
Primary outcome
number of genetic abnormalities
Time frame: 3 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Sep 2016.
- Individual participant dataSharing planned: No
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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.
Jean François Avierinos contact
Urielle Desalbres study director
Assistance Publique Hôpitaux de Marseille
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Extra blood draw samples and additional tissue samples in people with Bicuspid Aortic Valve, run by Assistance Publique Hopitaux De Marseille 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 2 inclusion and 2 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: status not confirmed, as of the sponsor's last update on 14 Sep 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Jean François Avierinos (jean-francois.avierinos@ap-hm.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
number of genetic abnormalities (time frame: 3 years). 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 14 Sep 2016.