Identification of Genetic Causes of Bicuspid Aortic Valve Disease

NCT01026571 | Active Not Recruiting

• 2 other identifiers: H-399001R21HL150373-01
• Study Type: observational
• Target: 11,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Bicuspid Aortic Valve

Keywords

Bicuspid aortic valve

Outcome Measures

Primary Outcomes (1)

• Identification of genetic variants associated with the occurrence of bicuspid aortic valve disease

  20 years

Study Arms (2)

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

Eligibility Criteria

• Age: 14 Years - 80 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• Non-English speaking

Sponsors & Collaborators

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

Study Sites (1)

Boston Medical Center

Boston, Massachusetts, 02118, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Collection of salivary DNA

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

• Simon C Body, MD MPH

  Boston University, Anesthesiology Department

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 3, 2009
• First Posted: December 4, 2009
• Study Start: December 1, 2009
• Primary Completion (Estimated): December 1, 2029
• Study Completion (Estimated): December 1, 2030
• Last Updated: April 1, 2026

Record last verified: 2026-03

Locations

US (1)