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
- Are there results?
- Not yet: the study is under way
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.
- More trials run by Boston UniversityThe sponsor's other registered studies.
- 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
Study at a glance
From the registry record, last updated by the sponsor on 1 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Genetic Causes of Bicuspid Aortic Valve Disease
- ClinicalTrials.gov ID
- NCT01026571
- Acronym / sponsor ID
- BAV Genetics / H-39900
- Conditions
- Bicuspid Aortic Valve
- Keywords
- Bicuspid aortic valve
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 11,000 participants (actual)
- Lead sponsor
- Boston UniversityUniversity, hospital or other
- Collaborators
- Massachusetts General Hospital, Brigham and Women's Hospital, National Heart, Lung, and Blood Institute (NHLBI)
- Study start
- Dec 2009 (actual)
- Primary completion
- Dec 2029 (estimated)
- Study completion
- Dec 2030 (estimated)
- First posted
- 4 Dec 2009 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 14 to 80 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- 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.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (1 listed)
- Non-English speaking
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Identification of genetic variants associated with the occurrence of bicuspid aortic valve disease
Time frame: 20 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Apr 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Simon C Body, MD MPH principal investigator
Boston University, Anesthesiology Department
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Bicuspid Aortic Valve, run by Boston University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 1 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of genetic variants associated with the occurrence of bicuspid aortic valve disease (time frame: 20 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Apr 2026; AzTrials last refreshed its copy on 8 Nov 2026.