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BAV Genetics: Identification of Genetic Causes of Bicuspid Aortic Valve Disease

Sponsor
Boston University (Other)
Overall Status
Active, not recruiting
CT.gov ID
NCT01026571
Collaborator
Massachusetts General Hospital (Other), Brigham and Women's Hospital (Other), National Heart, Lung, and Blood Institute (NHLBI) (NIH)
4,000
Enrollment
1
Location
252
Anticipated Duration (Months)
15.9
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

BAVgenetics is a partnership between Investigators at Boston University, Brigham and Women's Hospital, and Massachusetts General Hospital dedicated to discovering the genetic causes of bicuspid aortic valve disease and associated aortic disease.

Condition or Disease Intervention/Treatment Phase

    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 to the BAV Registry, so that this disease can be better understood and therapies for it can be developed.

    The BAV Registry is comprised of patients who have donated DNA collected from saliva (spit) and have provided us with personal health information that tells us about their bicuspid aortic valve.

    Individuals in the Registry have signed the consent form, filled out the medical history questionnaire and the authorization form, and provided DNA via our saliva sample kits.

    We will send you the requisite forms so that you receive the most up-to-date information about the study as older forms may be outdated. We also need paper copies of the forms; therefore, we send all the forms via ground mail along with a pre-paid return envelope for your convenience.

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    4000 participants
    Observational Model:
    Cohort
    Time Perspective:
    Prospective
    Official Title:
    Identification of Genetic Causes of Bicuspid Aortic Valve Disease
    Actual Study Start Date :
    Dec 1, 2009
    Anticipated Primary Completion Date :
    Dec 1, 2029
    Anticipated Study Completion Date :
    Dec 1, 2030

    Arms and Interventions

    Arm Intervention/Treatment
    Bicuspid aortic valve

    Collection of patients who are known to have bicuspid aortic valve disease, diagnosed by prior cardiac imaging
    Relative

    Collection of patients who are a relative to a patient known to have bicuspid aortic valve disease, diagnosed by prior cardiac imaging

    Outcome Measures

    Primary Outcome Measures

    1. Identification of genetic variants associated with the occurrence of bicuspid aortic valve disease [20 years]

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    14 Years to 80 Years
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    Yes
    Inclusion Criteria:

    • Any adult patient ≥ 14 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.

    • Relatives of patients with a diagnosis of bicuspid aortic valve are also welcomed to be enrolled regardless if they have BAV or not, as it is helpful to examine the DNA of first degree relatives.

    Exclusion Criteria:
    • Non-English speaking

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Boston Medical Center Boston Massachusetts United States 02118

    Sponsors and Collaborators

    • Boston University
    • Massachusetts General Hospital
    • Brigham and Women's Hospital
    • National Heart, Lung, and Blood Institute (NHLBI)

    Investigators

    • Principal Investigator: Simon C Body, MD MPH, Boston University, Anesthesiology Department

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Boston University
    ClinicalTrials.gov Identifier:
    NCT01026571
    Other Study ID Numbers:
    • H-39900
    • 1R21HL150373-01
    First Posted:
    Dec 4, 2009
    Last Update Posted:
    May 9, 2022
    Last Verified:
    May 1, 2022
    Keywords provided by Boston University
    Bicuspid aortic valve
    Additional relevant MeSH terms:
    Aortic Valve Disease
    Bicuspid Aortic Valve Disease
    Heart Valve Diseases

    Study Results

    No Results Posted as of May 9, 2022