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

Aortic Valve Disease Clinical Trial

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT01194362
• Other study ID #: 010-161
• Status: Active, not recruiting
• Start date: September 2010
• Est. completion date: December 2022

Study information

• Verified date: February 2022
• Source: Baylor Research Institute
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 105
• Est. completion date: December 2022
• Est. primary completion date: December 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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)

Related Conditions & MeSH terms

• Aortic Valve Disease
• Heart Defects, Congenital
• Heart Valve Diseases

Locations

Country	Name	City	State
United States	The Heart Hospital Baylor Plano	Plano	Texas

Sponsors (1)

Lead Sponsor	Collaborator
Baylor Research Institute

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Determine differences in genetic expression profiles using mRNA transcriptional analysis	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.	12 month
Secondary	Determine differences in the association between genetic expression profiles and aortic dilation in the two aortic valve disease groups.	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.	12 months
Secondary	Determine the association between expression of inflammatory markers/impaired response to oxidative stress and stenotic aortic valve disease.	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.	12 months