Genetic Risks for Bicuspid Aortic Valve Disease

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2014 by The University of Texas Health Science Center, Houston
Sponsor:
Information provided by (Responsible Party):
Siddharth Prakash, The University of Texas Health Science Center, Houston
ClinicalTrials.gov Identifier:
NCT01823432
First received: March 27, 2013
Last updated: August 26, 2014
Last verified: August 2014
  Purpose

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.


Condition
Bicuspid Aortic Valve
Unicuspid Aortic Valve

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Cohort
Target Follow-Up Duration: 10 Years
Official Title: Genetic Risks for Bicuspid Aortic Valve Disease

Resource links provided by NLM:


Further study details as provided by The University of Texas Health Science Center, Houston:

Primary Outcome Measures:
  • Thoracic aortic aneurysms and dissections [ Time Frame: 10 years ] [ Designated as safety issue: No ]
    Development of new aneurysms and/or dissections of the thoracic aorta

  • Aortic valve replacement surgery [ Time Frame: 10 years ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Aortic enlargement [ Time Frame: 10 years ] [ Designated as safety issue: No ]
    Dilation of thoracic aorta, new or progressive


Other Outcome Measures:
  • Aortic valve degeneration [ Time Frame: 10 years ] [ Designated as safety issue: No ]
    Increase in valve degeneration score by at least 1 unit


Biospecimen Retention:   Samples With DNA

Genomic DNA from whole blood


Estimated Enrollment: 400
Study Start Date: March 2012
Estimated Primary Completion Date: November 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts
BAV Cohort
Patients with bicuspid or unicuspid aortic valves, regardless of surgical status.

Detailed Description:

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.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Adults at least 18 years old with unicuspid or bicuspid aortic valves

Criteria

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
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01823432

Contacts
Contact: Siddharth Prakash, MD, PhD 713-500-7003 Siddharth.K.Prakash@uth.tmc.edu

Locations
United States, Texas
University of Texas Health Science Center Houston Recruiting
Houston, Texas, United States, 77030
Contact: Josephine Turner       josephine.turner@uth.tmc.edu   
Principal Investigator: Siddharth Prakash, MD, PhD         
Sub-Investigator: Dianna Milewicz, MD, PhD         
Sponsors and Collaborators
The University of Texas Health Science Center, Houston
  More Information

Additional Information:
No publications provided

Responsible Party: Siddharth Prakash, Assistant Professor - Internal Medicine, The University of Texas Health Science Center, Houston
ClinicalTrials.gov Identifier: NCT01823432     History of Changes
Other Study ID Numbers: BAV_Risks
Study First Received: March 27, 2013
Last Updated: August 26, 2014
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Aortic Valve Stenosis
Heart Valve Diseases
Heart Defects, Congenital
Heart Diseases
Cardiovascular Diseases
Ventricular Outflow Obstruction
Cardiovascular Abnormalities
Congenital Abnormalities

ClinicalTrials.gov processed this record on October 19, 2014