A Study to Identify Differences in Gene Expression in Patients With Bicuspid and Tricuspid Valve Disease

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2014 by Baylor Research Institute
Sponsor:
Information provided by (Responsible Party):
Baylor Research Institute
ClinicalTrials.gov Identifier:
NCT01194362
First received: September 1, 2010
Last updated: March 3, 2014
Last verified: March 2014
  Purpose

For this study, blood and tissue samples will be collected in order to perform genetic testing to help researchers gather information about this disease and how and why it affects some patients more than others.


Condition
Aortic Valve Disease

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: A Study to Establish Genomic Bio Signatures of Ascending Aortic Aneurysms in Patients With Bicuspid and Tricuspid Aortic Valve Disease With Aortic Stenosis

Resource links provided by NLM:


Further study details as provided by Baylor Research Institute:

Primary Outcome Measures:
  • Determine differences in genetic expression profiles using mRNA transcriptional analysis [ Time Frame: 12 month ] [ Designated as safety issue: No ]
    Determine differences in genetic expression profiles using mRNA transcriptional analysis in the three groups: subjects with bicuspid aortic valves with aortic stenosis, subjects with tricuspid aortic valves with stenosis, and subjects without aortic valve disease.


Secondary Outcome Measures:
  • Determine differences in the association between genetic expression profiles and aortic dilation in the two aortic valve disease groups. [ Time Frame: 12 months ] [ Designated as safety issue: No ]
    Determine differences in the association between genetic expression profiles and aortic dilation (in cm) among: subjects with bicuspid aortic valves and subjects with tricuspid aortic valves with aortic stenosis.

  • Determine the association between expression of inflammatory markers/impaired response to oxidative stress and stenotic aortic valve disease. [ Time Frame: 12 months ] [ Designated as safety issue: No ]
    Determine differences between expression of inflammatory markers/impaired response to oxidative stress and stenotic aortic valve disease among: subjects with bicuspid aortic valves and subjects with tricuspid aortic valves with aortic stenosis.


Biospecimen Retention:   Samples With DNA

Blood and Tissue


Estimated Enrollment: 105
Study Start Date: September 2010
Estimated Study Completion Date: September 2014
Estimated Primary Completion Date: September 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts
45 specimens collected from BAV patients
45 specimens collected from TAV patients
15 specimens collected from CABG pts

Detailed Description:

The cause of bicuspid aortic valve (BAV) and its associated co morbidities is unknown. There is, however, evidence supporting a genetic cause for the BAV, Pedigree analysis of familial clustering initially directed investigators to a genetic cause of BAV. Subsequent studies on BAV patients using linkage analysis have demonstrated high heritability.

Early identification of those patients with BAV disease who are at risk for ascending aneurysm formation and its complications may allow early intervention to prevent rupture, dissection and emergent cardiac surgery in at risk patients. Conversely, identification of those patients with BAVs not at risk for aortic aneurysm formation would delineate which patients do not need close follow up of aortic size or prophylactic ascending aortic replacement at time of aortic valve replacement.

  Eligibility

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

Hospital facility

Criteria

Inclusion Criteria:

  • Patients > or = to 18 years of age
  • Presenting with aortic stenosis and to undergo elective aortic valve replacement or repair with or without aortic aneurysm dilation repair
  • Able to sign informed consent document

Exclusion Criteria:

  • Patients unable to provide informed consent for any reason
  • Patients with predominant aortic regurgitation valve disease
  • Patients with other known connective tissue disorders (such as Marfan's Syndrome, Ehlers-Danlos Syndrome)
  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: NCT01194362

Contacts
Contact: Geoffrey Gong 469-814-4732 gang.gong@baylorhealth.edu

Locations
United States, Texas
The Heart Hospital Baylor Plano Recruiting
Plano, Texas, United States, 75093
Contact: Natalie Settele    469-814-4712    Natalie.Settele@Baylorhealth.edu   
Principal Investigator: William Brinkman, MD         
Sponsors and Collaborators
Baylor Research Institute
Investigators
Principal Investigator: William Brinkman, MD The Heart Hospital Baylor Plano
  More Information

No publications provided

Responsible Party: Baylor Research Institute
ClinicalTrials.gov Identifier: NCT01194362     History of Changes
Other Study ID Numbers: 010-161
Study First Received: September 1, 2010
Last Updated: March 3, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by Baylor Research Institute:
aortic valve disease
gene expression

Additional relevant MeSH terms:
Heart Defects, Congenital
Heart Valve Diseases
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Congenital Abnormalities

ClinicalTrials.gov processed this record on August 28, 2014