Genetic Risks for Bicuspid Aortic Valve Disease
1 other identifier
observational
454
1 country
1
Brief Summary
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Mar 2012
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
March 1, 2012
CompletedFirst Submitted
Initial submission to the registry
March 27, 2013
CompletedFirst Posted
Study publicly available on registry
April 4, 2013
CompletedPrimary Completion
Last participant's last visit for primary outcome
September 19, 2022
CompletedStudy Completion
Last participant's last visit for all outcomes
September 19, 2022
CompletedSeptember 21, 2022
September 1, 2022
10.6 years
March 27, 2013
September 19, 2022
Conditions
Outcome Measures
Primary Outcomes (2)
Thoracic aortic aneurysms and dissections
Development of new aneurysms and/or dissections of the thoracic aorta
10 years
Aortic valve replacement surgery
10 years
Secondary Outcomes (1)
Aortic enlargement
10 years
Other Outcomes (1)
Aortic valve degeneration
10 years
Study Arms (1)
BAV Cohort
Patients with bicuspid or unicuspid aortic valves, regardless of surgical status.
Eligibility Criteria
Adults at least 18 years old with unicuspid or bicuspid aortic valves
You may qualify if:
- At least 18 years of age
- Diagnosis of bicuspid or unicuspid aortic valve
You may not qualify if:
- Less than 18 years of age
- Recognized syndrome or identified genetic mutation
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
University of Texas Health Science Center Houston
Houston, Texas, 77030, United States
Related Publications (1)
DiGregorio H, Mansoorshahi S, Carlisle SG, Tovar Pensa C, Watts A, McNeely C, Sabate-Rotes A, Yetman A, Michelena HI, De Backer JFA, Mosquera LM, Bissell MM, Andreassi MG, Foffa I, Hui DS, Caffarelli A, Kim YY, Citro R, De Marco M, Tretter JT, McBride KL, Body SC, Milewicz DM, Prakash SK; EBAV Investigators. Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve. Heart. 2025 Feb 12;111(5):221-229. doi: 10.1136/heartjnl-2024-324669.
PMID: 39658198DERIVED
Related Links
Biospecimen
Genomic DNA from whole blood Genomic DNA from saliva Aortic valve tissue preserved in RNALater
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Siddharth Prakash, MD, PhD
The University of Texas Health Science Center, Houston
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- OTHER
- Target Duration
- 10 Years
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Assistant Professor - Internal Medicine
Study Record Dates
First Submitted
March 27, 2013
First Posted
April 4, 2013
Study Start
March 1, 2012
Primary Completion
September 19, 2022
Study Completion
September 19, 2022
Last Updated
September 21, 2022
Record last verified: 2022-09
Data Sharing
- IPD Sharing
- Will not share