Clinical trial NCT01026571: Identification of Genetic Causes of Bicuspid Aortic Valve Disease
Official title: Identification of Genetic Causes of Bicuspid Aortic Valve Disease
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Bicuspid Aortic Valve
Keywords: Bicuspid aortic valve
Lead sponsor: Boston University
Sponsor class: OTHER
Collaborators: name: Massachusetts General Hospital
name: Brigham and Women's Hospital
name: National Heart, Lung, and Blood Institute (NHLBI)
First posted: 2009-12-04
Enrollment: 4000
Sex: ALL
Minimum age (years): 14
Maximum age (years): 80
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
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.

Brief 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.

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send you the requisite forms so that you receive the most up-to-date information about the study as older forms may be outdated.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.

Eligibility criteria: 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

Primary outcomes:
measure: Identification of genetic variants associated with the occurrence of bicuspid aortic valve disease
timeFrame: 20 years
Secondary outcomes:
Other outcomes:
Locations:
city: Boston
country: United States
facility: Boston Medical Center
state: Massachusetts
Study officials:
affiliation: Boston University, Anesthesiology Department
name: Simon C Body, MD MPH
role: PRINCIPAL_INVESTIGATOR
References: