Identification of Genetic Causes of Bicuspid Aortic Valve Disease

Bicuspid Aortic Valve Clinical Trial

— BAV Genetics  

Official title:

Identification of Genetic Causes of Bicuspid Aortic Valve Disease

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT01026571
• Other study ID #: H-39900
• Secondary ID: 1R21HL150373-01
• Status: Active, not recruiting
• Start date: December 2009
• Est. completion date: December 2030

Study information

• Verified date: May 2023
• Source: Boston University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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send you the requisite forms so that you receive the most up-to-date information about the study as older forms may be outdated.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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 4000
• Est. completion date: December 2030
• Est. primary completion date: December 2029
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 14 Years to 80 Years

Eligibility

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

Related Conditions & MeSH terms

• Aortic Valve Disease
• Bicuspid Aortic Valve
• Bicuspid Aortic Valve Disease
• Heart Valve Diseases

Locations

Country	Name	City	State
United States	Boston Medical Center	Boston	Massachusetts

Sponsors (4)

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

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification of genetic variants associated with the occurrence of bicuspid aortic valve disease		20 years