Bicuspid Aortic ValveBAV GeneticsNCT01026571
Identification of Genetic Causes of Bicuspid Aortic Valve Disease
An observational study of Bicuspid Aortic Valve, run by Boston University at 1 site in United States.
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. Read more about this study
- Who is it for?
- Ages 14 to 80 yearsHealthy volunteers can take part
- Conditions the study is for
- Bicuspid Aortic Valve
- How many people
- 11,000 participants
- Where
- 1 siteUnited States
- Study dates
- Dec 2009to Dec 2030
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 14 to 80 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- Non-English speaking
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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.
- Conditions
- Bicuspid Aortic Valve
- Keywords
- Bicuspid aortic valve
- Medical subject headings
- Bicuspid Aortic Valve Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
Identification of genetic variants associated with the occurrence of bicuspid aortic valve disease
Measured: 20 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Dec 2009 (estimated)
- Study startDec 2009
- Primary completionDec 2029 (estimated)
- Study completionDec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Bicuspid Aortic ValveStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 11,000 participants (actual)
Sponsor and investigators
- Lead sponsor
- Boston University
- Sponsor type
- University, hospital or other
- Collaborators
- Massachusetts General Hospital, Brigham and Women's Hospital, National Heart, Lung, and Blood Institute (NHLBI)
- Responsible party
- Sponsor
- Investigators
- Simon C Body, MD MPH, Principal investigator, Boston University, Anesthesiology Department
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01026571
- Sponsor's protocol ID
- H-39900
- Other IDs
- 1R21HL150373-01
- Acronym
- BAV Genetics
- Status last verified
- Mar 2026
- First submitted
- 3 Dec 2009
- Last updated
- 1 Apr 2026
- Results posted
- No
- Data monitoring committee
- No