Genetic Risks for Bicuspid Aortic Valve Disease

September 19, 2022 updated by: Siddharth Prakash, The University of Texas Health Science Center, Houston
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.

Study Overview

Status

Completed

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.

Study Type

Observational

Enrollment (Actual)

454

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

    • Texas
      • Houston, Texas, United States, 77030
        • University of Texas Health Science Center Houston

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

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

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
BAV Cohort
Patients with bicuspid or unicuspid aortic valves, regardless of surgical status.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Thoracic aortic aneurysms and dissections
Time Frame: 10 years
Development of new aneurysms and/or dissections of the thoracic aorta
10 years
Aortic valve replacement surgery
Time Frame: 10 years
10 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Aortic enlargement
Time Frame: 10 years
Dilation of thoracic aorta, new or progressive
10 years

Other Outcome Measures

Outcome Measure
Measure Description
Time Frame
Aortic valve degeneration
Time Frame: 10 years
Increase in valve degeneration score by at least 1 unit
10 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

  • Principal Investigator: Siddharth Prakash, MD, PhD, The University of Texas Health Science Center, Houston

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 1, 2012

Primary Completion (Actual)

September 19, 2022

Study Completion (Actual)

September 19, 2022

Study Registration Dates

First Submitted

March 27, 2013

First Submitted That Met QC Criteria

April 2, 2013

First Posted (Estimate)

April 4, 2013

Study Record Updates

Last Update Posted (Actual)

September 21, 2022

Last Update Submitted That Met QC Criteria

September 19, 2022

Last Verified

September 1, 2022

More Information

Terms related to this study

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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