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Genetic Risks for Bicuspid Aortic Valve Disease

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ClinicalTrials.gov Identifier: NCT01823432
Recruitment Status : Recruiting
First Posted : April 4, 2013
Last Update Posted : May 4, 2017
Information provided by (Responsible Party):

March 27, 2013
April 4, 2013
May 4, 2017
March 2012
May 2021   (Final data collection date for primary outcome measure)
  • Thoracic aortic aneurysms and dissections [ Time Frame: 10 years ]
    Development of new aneurysms and/or dissections of the thoracic aorta
  • Aortic valve replacement surgery [ Time Frame: 10 years ]
Same as current
Complete list of historical versions of study NCT01823432 on ClinicalTrials.gov Archive Site
Aortic enlargement [ Time Frame: 10 years ]
Dilation of thoracic aorta, new or progressive
Same as current
Aortic valve degeneration [ Time Frame: 10 years ]
Increase in valve degeneration score by at least 1 unit
Same as current
Genetic Risks for Bicuspid Aortic Valve Disease
Genetic Risks for Bicuspid Aortic Valve Disease
Bicuspid Aortic Valve (BAV) is the most common congenital heart malformation in adults, but very little is known about the genetic causes or risk factors for adverse outcomes. Currently, it is estimated that most cases of aortic stenosis in patients less than 65 years old are caused by BAVs. BAV patients are also at high risk to develop aneurysms of the ascending aorta, which may lead to aortic dissections. Dr. Prakash and his colleagues plan to use individual genetic information to identify persons with BAV who are at high risk for complications and to customize therapies.
To be included in the study, patients must have a bicuspid or unicuspid aortic valve, documented by clinical history or imaging studies. If the aortic valve was replaced surgically, they may still be eligible. Participants will be asked to donate a single tube of blood and fill out a questionnaire. Patients will also be followed up by telephone or email about once a year to determine if they experience any medical complications related to Bicuspid Aortic Valve (BAV), such as aortic aneurysms, aortic dissections or valve disease. Patients may not be included if they are less than 18 years old at the time of recruitment or have a recognized genetic syndrome or genetic mutation such as Marfan or Ehlers-Danlos syndrome.
Observational [Patient Registry]
Observational Model: Cohort
Time Perspective: Other
10 Years
Retention:   Samples With DNA
Genomic DNA from whole blood Genomic DNA from saliva Aortic valve tissue preserved in RNALater
Non-Probability Sample
Adults at least 18 years old with unicuspid or bicuspid aortic valves
  • Bicuspid Aortic Valve
  • Unicuspid Aortic Valve
Not Provided
BAV Cohort
Patients with bicuspid or unicuspid aortic valves, regardless of surgical status.
Not Provided
November 2022
May 2021   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  • At least 18 years of age
  • Diagnosis of bicuspid or unicuspid aortic valve

Exclusion Criteria:

  • Less than 18 years of age
  • Recognized syndrome or identified genetic mutation
Sexes Eligible for Study: All
18 Years and older   (Adult, Senior)
Contact: Siddharth Prakash, MD, PhD 713-500-7003 Siddharth.K.Prakash@uth.tmc.edu
United States
Not Provided
Plan to Share IPD: No
Siddharth Prakash, The University of Texas Health Science Center, Houston
The University of Texas Health Science Center, Houston
Not Provided
Principal Investigator: Siddharth Prakash, MD, PhD The University of Texas Health Science Center, Houston
The University of Texas Health Science Center, Houston
May 2017