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

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.

Study Overview

• Status: Active, not recruiting
• Conditions: Bicuspid Aortic Valve

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send you the requisite forms so that you receive the most up-to-date information about the study as older forms may be outdated.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 Type: Observational
• Enrollment (Anticipated): 4000

Contacts and Locations

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02118
      • Boston Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 14 years to 80 years (Child, Adult, Older Adult)
• 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. 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.

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Identification of genetic variants associated with the occurrence of bicuspid aortic valve disease	20 years

Collaborators and Investigators

• Sponsor: Boston University
• Collaborators: Massachusetts General Hospital; National Heart, Lung, and Blood Institute (NHLBI); Brigham and Women's Hospital
• Investigators: Principal Investigator: Simon C Body, MD MPH, Boston University, Anesthesiology Department

Study record dates

Study Major Dates

• Study Start (Actual): December 1, 2009
• Primary Completion (Anticipated): December 1, 2029
• Study Completion (Anticipated): December 1, 2030

Study Registration Dates

• First Submitted: December 3, 2009
• First Submitted That Met QC Criteria: December 3, 2009
• First Posted (Estimate): December 4, 2009

Study Record Updates

• Last Update Posted (Estimate): May 11, 2023
• Last Update Submitted That Met QC Criteria: May 10, 2023
• Last Verified: May 1, 2023

More Information

Terms related to this study

• Keywords: Bicuspid aortic valve
• Additional Relevant MeSH Terms: Heart Diseases; Cardiovascular Diseases; Congenital Abnormalities; Heart Defects, Congenital; Cardiovascular Abnormalities; Heart Valve Diseases; Aortic Valve Disease; Bicuspid Aortic Valve Disease
• Other Study ID Numbers: H-39900; 1R21HL150373-01 (U.S. NIH Grant/Contract)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No