Whole Exome Sequencing in Bicuspid Aortic Valve Patients

NCT02899624 | Unknown

• 1 other identifier: 2013-09
• Study Type: interventional
• Target: 427
• Locations: 1 country
• Sites: 1

Brief 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

Outcome Measures

Primary Outcomes (1)

• number of genetic abnormalities

  3 years

Study Arms (3)

Bicuspid aortic valve (BAV)

EXPERIMENTAL

patient with bicuspid aortic valve

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

Biological: Extra blood draw samples

Tricuspid aortic valve (TAV)

ACTIVE COMPARATOR

patient with aortic stenosis on tricuspid valve

Biological: additional tissue samples

Interventions

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)

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

• aortic syndromic pathology
• antecedent of acute articular rhumatism

Sponsors & Collaborators

• Assistance Publique Hopitaux De Marseille: lead

Study Sites (1)

Assistance Publique Hôpitaux de Marseille

Marseille, 13005, France

RECRUITING

MeSH Terms

Conditions

Bicuspid Aortic Valve Disease

Condition Hierarchy (Ancestors)

Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Aortic Valve Disease; Heart Valve Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Urielle Desalbres

  Assistance Publique Hôpitaux de Marseille

  STUDY DIRECTOR

Central Study Contacts

Jean François Avierinos

CONTACT

jean-francois.avierinos@ap-hm.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: PREVENTION
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 9, 2016
• First Posted: September 14, 2016
• Study Start: January 1, 2014
• Primary Completion: January 1, 2017
• Study Completion: January 1, 2018
• Last Updated: September 14, 2016

Record last verified: 2016-09

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)