An observational study in Bicuspid Aortic Valve, sponsored by Boston University. Active, not recruiting at 1 site in United States. Open to participants aged 14 Years to 80 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-04-01.
Sponsored by Boston University · Observational
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.
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send you the requisite forms so that you receive the most up-to-date information about the study as older forms may be outdated.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.
56 studies on the registry are indexed under Bicuspid Aortic Valve Disease; 24 are open to participants now.
This study's enrollment of 11,000 is above the median of 245 across 36 observational studies indexed under Bicuspid Aortic Valve Disease.
Browse Bicuspid Aortic Valve Disease studies →Boston University is the lead sponsor of 266 studies on the registry; 37 are open to participants now.
Of its 30 completed or terminated interventional studies of FDA-regulated products, 24 (80%) have results posted.
Counted across the registry records on this site, refreshed daily.
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.
Exclusion Criteria:
Collection of patients who are known to have bicuspid aortic valve disease, diagnosed by prior cardiac imaging
Collection of patients who are a relative to a patient known to have bicuspid aortic valve disease, diagnosed by prior cardiac imaging
Identification of genetic variants associated with the occurrence of bicuspid aortic valve disease
Time frame: 20 years
This study is active, not recruiting, as verified in Mar 2026. You cannot join it, but the record below documents what was studied.
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Bicuspid Aortic Valve Disease→
Boston University