Identification of Genetic Causes of Bicuspid Aortic Valve Disease (BAV Genetics)
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ClinicalTrials.gov Identifier: NCT01026571 |
Recruitment Status :
Active, not recruiting
First Posted : December 4, 2009
Last Update Posted : May 9, 2022
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Condition or disease |
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Bicuspid Aortic Valve |
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send you the requisite forms so that you receive the most up-to-date information about the study as older forms may be outdated.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 Type : | Observational |
Estimated Enrollment : | 4000 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | Identification of Genetic Causes of Bicuspid Aortic Valve Disease |
Actual Study Start Date : | December 2009 |
Estimated Primary Completion Date : | December 2029 |
Estimated Study Completion Date : | December 2030 |
Group/Cohort |
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Bicuspid aortic valve
Collection of patients who are known to have bicuspid aortic valve disease, diagnosed by prior cardiac imaging
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Relative
Collection of patients who are a relative to a patient known to have bicuspid aortic valve disease, diagnosed by prior cardiac imaging
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- Identification of genetic variants associated with the occurrence of bicuspid aortic valve disease [ Time Frame: 20 years ]
Biospecimen Retention: Samples With DNA

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | 14 Years to 80 Years (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
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.
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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01026571
United States, Massachusetts | |
Boston Medical Center | |
Boston, Massachusetts, United States, 02118 |
Principal Investigator: | Simon C Body, MD MPH | Boston University, Anesthesiology Department |
Responsible Party: | Boston University |
ClinicalTrials.gov Identifier: | NCT01026571 |
Other Study ID Numbers: |
H-39900 1R21HL150373-01 ( U.S. NIH Grant/Contract ) |
First Posted: | December 4, 2009 Key Record Dates |
Last Update Posted: | May 9, 2022 |
Last Verified: | May 2022 |
Bicuspid aortic valve |
Aortic Valve Disease Bicuspid Aortic Valve Disease Heart Valve Diseases Heart Diseases |
Cardiovascular Diseases Heart Defects, Congenital Cardiovascular Abnormalities Congenital Abnormalities |