Whole Exome Sequencing in Bicuspid Aortic Valve Patients

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Clinical Phase

NA

Total Enrollment

427 participants

Study Classification

INTERVENTIONAL

Study Start Date

2014-01-31

Study Completion Date

2018-01-31

Brief Summary

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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.

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Detailed Description

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Conditions

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Bicuspid Aortic Valve

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

PREVENTION

Blinding Strategy

NONE

Study Groups

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Bicuspid aortic valve (BAV)

patient with bicuspid aortic valve

Group Type EXPERIMENTAL

Extra blood draw samples

Intervention Type BIOLOGICAL

additional tissue samples

Intervention Type BIOLOGICAL

healthy subjects related patients with BAV

healthy control, related to patient with bicuspid aortic valve, at the 1st, 2nd or 3rd degree

Group Type ACTIVE_COMPARATOR

Extra blood draw samples

Intervention Type BIOLOGICAL

Tricuspid aortic valve (TAV)

patient with aortic stenosis on tricuspid valve

Group Type ACTIVE_COMPARATOR

additional tissue samples

Intervention Type BIOLOGICAL

Interventions

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Extra blood draw samples

Intervention Type BIOLOGICAL

additional tissue samples

Intervention Type BIOLOGICAL

Eligibility Criteria

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Inclusion Criteria

* bicuspid aortic valve, confirmed by transthoracic or transesophageal echocardiography
* With or without an aneurysm of the ascending thoracic aorta nonsyndromic