11,000 volunteers help unlock genetic secrets of heart valve disease
NCT ID NCT01026571
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study is looking for the genetic causes of bicuspid aortic valve disease, a common heart condition where the aortic valve has two flaps instead of three. Researchers will analyze DNA from 11,000 participants, including patients and their relatives, to find gene changes linked to the disease. The goal is to better understand why it happens and who is at risk.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
-
11,000 people
The number who actually took part.
- Started
-
Dec 2009
- Expected to finish
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Dec 2030
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
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.
- Ages
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14 to 80 years
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Boston Medical Center
Boston, Massachusetts, 02118, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- A new way to size heart valves: could the 'circle method' reduce TAVI complications?
- New study tracks how a common heart valve performs in people born with a bicuspid valve
- 6,464 patients join global hunt for bicuspid valve genes
- Hunt for heart valve genes launches in 700 volunteers
- Less invasive heart valve replacement put to the test against Open-Heart surgery
- Scientists hunt for hidden genes behind aortic aneurysms