Whole Exome Sequencing in Bicuspid Aortic Valve Patients

September 9, 2016 updated by: Assistance Publique Hopitaux De Marseille

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

Unknown

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Anticipated)

427

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

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

This section provides details of the study plan, including how the study is designed and what the study is measuring.

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
Biological: Extra blood draw samples
Biological: additional tissue samples
Active Comparator: healthy subjects related patients with BAV
healthy control, related to patient with bicuspid aortic valve, at the 1st, 2nd or 3rd degree
Biological: Extra blood draw samples
Active Comparator: Tricuspid aortic valve (TAV)
patient with aortic stenosis on tricuspid valve
Biological: additional tissue samples

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

This is where you will find people and organizations involved with this study.

Sponsor

Assistance Publique Hopitaux De Marseille

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

January 1, 2014

Primary Completion (Anticipated)

January 1, 2017

Study Completion (Anticipated)

January 1, 2018

Study Registration Dates

First Submitted

September 9, 2016

First Submitted That Met QC Criteria

September 9, 2016

First Posted (Estimate)

September 14, 2016

Study Record Updates

Last Update Posted (Estimate)

September 14, 2016

Last Update Submitted That Met QC Criteria

September 9, 2016

Last Verified

September 1, 2016

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)?

NO

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.

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