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

This study is currently recruiting participants.
Verified July 2016 by Simon Body, Brigham and Women's Hospital
Sponsor:
ClinicalTrials.gov Identifier:
NCT01026571
First Posted: December 4, 2009
Last Update Posted: July 21, 2016
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Collaborator:
Massachusetts General Hospital
Information provided by (Responsible Party):
Simon Body, Brigham and Women's Hospital
  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 Simon Body, 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 ]

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

Information from the National Library of Medicine

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, Learn About Clinical Studies.


Ages Eligible for Study:   18 Years to 80 Years   (Adult, Senior)
Sexes Eligible for Study:   All
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:

  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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

Responsible Party: Simon Body, Associate Professor, Brigham and Women's Hospital
ClinicalTrials.gov Identifier: NCT01026571     History of Changes
Other Study ID Numbers: 2009P001639
First Submitted: December 3, 2009
First Posted: December 4, 2009
Last Update Posted: July 21, 2016
Last Verified: July 2016

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

Additional relevant MeSH terms:
Heart Valve Diseases
Aortic Valve Stenosis
Heart Diseases
Cardiovascular Diseases
Ventricular Outflow Obstruction