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Identification of Genetic Causes of Bicuspid Aortic Valve Disease (BAV Genetics)

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ClinicalTrials.gov Identifier: NCT01026571
Recruitment Status : Recruiting
First Posted : December 4, 2009
Last Update Posted : January 3, 2019
Sponsor:
Collaborators:
Massachusetts General Hospital
Brigham and Women's Hospital
Information provided by (Responsible Party):
Simon Body, Beth Israel Deaconess Medical Center

Brief Summary:
BAVgenetics is a partnership between Investigators at Beth Israel Deaconess Medical Center, Brigham and Women's Hospital, Massachusetts General Hospital and the Harvard-Partners Center for Genetics and Genomics, dedicated to discovering the genetic causes of bicuspid aortic valve disease and associated aortic disease.

Condition or disease
Bicuspid Aortic Valve

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send you the requisite forms so that you receive the most up-to-date information about the study as older forms may be outdated.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


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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
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



Primary Outcome Measures :
  1. Identification of genetic variants associated with the occurrence of bicuspid aortic valve disease [ Time Frame: 10 years ]

Biospecimen Retention:   Samples With DNA
Collection of salivary DNA


Information from the National Library of Medicine

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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
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.

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

Information from the National Library of Medicine

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


Contacts
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Contact: Simon C Body, MBChB, MPH 617-632-0718 ext 28066 sbody@bidmc.harvard.edu

Locations
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United States, Massachusetts
Beth Israel Deaconess Medical Center Recruiting
Boston, Massachusetts, United States, 02215
Contact: Simon C Body, MD    617-632-8066    sbody@bidmc.harvard.edu   
Sponsors and Collaborators
Beth Israel Deaconess Medical Center
Massachusetts General Hospital
Brigham and Women's Hospital
Investigators
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Principal Investigator: Simon C Body, MBChB, MPH Beth Israel Deaconess Medical Center

Additional Information:
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Responsible Party: Simon Body, Vice Chair of Research, Beth Israel Deaconess Medical Center
ClinicalTrials.gov Identifier: NCT01026571     History of Changes
Other Study ID Numbers: 2018P000288
First Posted: December 4, 2009    Key Record Dates
Last Update Posted: January 3, 2019
Last Verified: December 2018

Keywords provided by Simon Body, Beth Israel Deaconess Medical Center:
Bicuspid aortic valve

Additional relevant MeSH terms:
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Heart Valve Diseases
Heart Diseases
Cardiovascular Diseases