Identification of Genetic Mechanisms of Bicuspid Aortic Valve Disease (BAV Genetics)

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2013 by Brigham and Women's Hospital
Sponsor:
Collaborator:
Massachusetts General Hospital
Information provided by (Responsible Party):
Simon Body, Brigham and Women's Hospital
ClinicalTrials.gov Identifier:
NCT01026571
First received: December 3, 2009
Last updated: July 29, 2013
Last verified: July 2013
  Purpose

BAVgenetics is a partnership between Investigators at Brigham and Women's Hospital, Massachusetts General Hospital and the Harvard-Partners Center for Genetics and Genomics, dedicated to discovering the genetic causes of bicuspid aortic valve disease and associated aortic disease.


Condition
Bicuspid Aortic Valve

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Identification of Genetic Mechanisms of Bicuspid Aortic Valve Disease

Resource links provided by NLM:


Further study details as provided by Brigham and Women's Hospital:

Primary Outcome Measures:
  • Identification of genetic variants associated with the occurrence of bicuspid aortic valve disease [ Time Frame: 10 years ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Collection of salivary DNA


Estimated Enrollment: 4000
Study Start Date: December 2009
Estimated Study Completion Date: December 2019
Estimated Primary Completion Date: December 2019 (Final data collection date for primary outcome measure)
Groups/Cohorts
Bicuspid aortic valve
Collection of patients who are known to have bicuspid aortic valve disease, diagnosed by prior cardiac imaging

Detailed Description:

The Investigators at BAVgenetics are dedicated to discovering the mechanisms of bicuspid aortic valve disease and why individual genetics seem to play such an important role in generation of this disease.

If you have, or have had, a bicuspid aortic valve, we seek your help in this effort by volunteering to donate DNA and details of your disease to the Investigators, so that this disease can be better understood and therapies for it can be developed.

  Eligibility

Ages Eligible for Study:   18 Years to 80 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

The investigators wish to identify genetic variation that is associated with BAV in Americans.

Patients with a diagnosis of bicuspid aortic valve will be enrolled. Patients who have had their bicuspid aortic valve previously replaced will also be enrolled.

Criteria

Inclusion Criteria:

  • Any adult patient ≥ 18 years of age may be recruited regardless of gender, ethnicity or racial group.
  • Patients with a diagnosis of bicuspid aortic valve will be enrolled.
  • Patients who have had their bicuspid aortic valve previously replaced will also be enrolled.

Exclusion Criteria:

  • None
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01026571

Contacts
Contact: Simon C Body, MBChB, MPH 617-732-7330 body@zeus.bwh.harvard.edu

Locations
United States, Massachusetts
Massachusetts General Hospital Recruiting
Boston, Massachusetts, United States, 02115
Sponsors and Collaborators
Brigham and Women's Hospital
Massachusetts General Hospital
Investigators
Principal Investigator: Simon C Body, MBChB, MPH Brigham and Women's Hospital
Principal Investigator: Christine E Seidman, MD Brigham and Women's Hospital
Principal Investigator: Jon G Seidman, PhD Harvard Partners Center for Genetics and Genomics
Principal Investigator: Robert Levine, MD Massachusetts General Hospital
Principal Investigator: Eric M Isselbacher, MD Massachusetts General Hospital
  More Information

Additional Information:
No publications provided

Responsible Party: Simon Body, Associate Professor, Brigham and Women's Hospital
ClinicalTrials.gov Identifier: NCT01026571     History of Changes
Other Study ID Numbers: 2009P001639
Study First Received: December 3, 2009
Last Updated: July 29, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by Brigham and Women's Hospital:
Bicuspid aortic valve

Additional relevant MeSH terms:
Aortic Valve Stenosis
Heart Valve Diseases
Heart Defects, Congenital
Heart Diseases
Cardiovascular Diseases
Ventricular Outflow Obstruction
Cardiovascular Abnormalities
Congenital Abnormalities

ClinicalTrials.gov processed this record on August 28, 2014