- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02899624
Whole Exome Sequencing in Bicuspid Aortic Valve Patients
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 Overview
Status
Conditions
Intervention / Treatment
Study Type
Enrollment (Anticipated)
Phase
- Not Applicable
Contacts and Locations
Study Contact
- Name: Jean François Avierinos
- Email: jean-francois.avierinos@ap-hm.fr
Study Locations
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-
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Marseille, France, 13005
- Recruiting
- Assistance Publique Hopitaux de Marseille
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Contact:
- Jean-François Avierinos
- Email: jean-francois.avierinos@ap-hm.fr
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-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
Inclusion Criteria:
- bicuspid aortic valve, confirmed by transthoracic or transesophageal echocardiography
- With or without an aneurysm of the ascending thoracic aorta nonsyndromic
Exclusion Criteria:
- aortic syndromic pathology
- antecedent of acute articular rhumatism
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Prevention
- Allocation: Non-Randomized
- Interventional Model: Parallel Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Experimental: Bicuspid aortic valve (BAV)
patient with bicuspid aortic valve
|
|
Active Comparator: healthy subjects related patients with BAV
healthy control, related to patient with bicuspid aortic valve, at the 1st, 2nd or 3rd degree
|
|
Active Comparator: Tricuspid aortic valve (TAV)
patient with aortic stenosis on tricuspid valve
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
number of genetic abnormalities
Time Frame: 3 years
|
3 years
|
Collaborators and Investigators
Study record dates
Study Major Dates
Study Start
Primary Completion (Anticipated)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Estimate)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 2013-09
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Bicuspid Aortic Valve
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Boston UniversityNational Heart, Lung, and Blood Institute (NHLBI)Active, not recruitingBicuspid Aortic Valve Disease | Thoracic Aortic Disease in Patients With a Bicuspid Aortic ValveUnited States, Spain, United Kingdom, Canada, Italy
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St. George's Hospital, LondonCompletedThoracic Aortic Aneurysm | Bicuspid Cardiac ValveUnited Kingdom
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Oregon Health and Science UniversityUniversity of Colorado, Denver; Baylor College of Medicine; University of California... and other collaboratorsCompleted
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National University of Ireland, Galway, IrelandKarolinska University Hospital; Galway University Hospitals; Kerckhoff Heart... and other collaboratorsEnrolling by invitationAortic Stenosis | Transcatheter Aortic Valve Replacement | Bicuspid Aortic Valve | Transcatheter Aortic Valve ImplantationSweden, Ireland, Germany
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Institut für Pharmakologie und Präventive MedizinEdwards LifesciencesRecruitingAortic Stenosis With Bicuspid ValveItaly
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Clinique PasteurUnknownBicuspid Aortic ValveFrance
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The University of Texas Health Science Center,...CompletedBicuspid Aortic Valve | Unicuspid Aortic ValveUnited States
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University Hospitals, LeicesterRecruiting
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University of MichiganRecruiting
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