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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 : March 21, 2018
Sponsor:
Information provided by (Responsible Party):
Siddharth Prakash, The University of Texas Health Science Center, Houston

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.

Condition or disease
Bicuspid Aortic Valve Unicuspid Aortic Valve

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 [Patient Registry]
Estimated Enrollment : 400 participants
Observational Model: Cohort
Time Perspective: Other
Target Follow-Up Duration: 10 Years
Official Title: Genetic Risks for Bicuspid Aortic Valve Disease
Study Start Date : March 2012
Estimated Primary Completion Date : May 2021
Estimated Study Completion Date : November 2022

Resource links provided by the National Library of Medicine

U.S. FDA Resources

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



Primary Outcome Measures :
  1. Thoracic aortic aneurysms and dissections [ Time Frame: 10 years ]
    Development of new aneurysms and/or dissections of the thoracic aorta

  2. Aortic valve replacement surgery [ Time Frame: 10 years ]

Secondary Outcome Measures :
  1. Aortic enlargement [ Time Frame: 10 years ]
    Dilation of thoracic aorta, new or progressive


Other Outcome Measures:
  1. Aortic valve degeneration [ Time Frame: 10 years ]
    Increase in valve degeneration score by at least 1 unit


Biospecimen Retention:   Samples With DNA
Genomic DNA from whole blood Genomic DNA from saliva Aortic valve tissue preserved in RNALater


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
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

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): 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: Jacqueline Jennings       MSBicuspidAorticValveStudy@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
Investigators
Principal Investigator: Siddharth Prakash, MD, PhD The University of Texas Health Science Center, Houston

Additional Information:
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
First Posted: April 4, 2013    Key Record Dates
Last Update Posted: March 21, 2018
Last Verified: March 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Additional relevant MeSH terms:
Heart Valve Diseases
Aortic Valve Stenosis
Heart Diseases
Cardiovascular Diseases
Ventricular Outflow Obstruction