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Whole Exome Sequencing in Bicuspid Aortic Valve Patients

NCT02899624 · Status: UNKNOWN · Phase: NA · Type: INTERVENTIONAL · Enrollment: 427

Last updated 2016-09-14

No results posted yet for this study

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 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

Interventions

BIOLOGICAL

Extra blood draw samples

BIOLOGICAL

additional tissue samples

Sponsors & Collaborators

  • Assistance Publique Hopitaux De Marseille

    lead OTHER

Principal Investigators

  • Urielle Desalbres · Assistance Publique Hôpitaux de Marseille

Study Design

Allocation
NON_RANDOMIZED
Purpose
PREVENTION
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2014-01-31
Primary Completion
2017-01-31
Completion
2018-01-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02899624 on ClinicalTrials.gov