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Completed

NCT Number: NCT01194362

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

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.

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Key information

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

The Heart Hospital Baylor Plano

Plano, Texas, 75093, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

Primary outcomes

  1. Determine differences in genetic expression profiles using mRNA transcriptional analysis

    Time frame: 12 month

    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 outcomes

  1. Determine differences in the association between genetic expression profiles and aortic dilation in the two aortic valve disease groups.

    Time frame: 12 months

    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.

  2. Determine the association between expression of inflammatory markers/impaired response to oxidative stress and stenotic aortic valve disease.

    Time frame: 12 months

    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.

Sponsors and collaborators

Lead sponsor

Baylor Research Institute

Other

Registry information

Official study title

A Study to Establish Genomic Bio Signatures of Ascending Aortic Aneurysms in Patients With Bicuspid and Tricuspid Aortic Valve Disease With Aortic Stenosis

Important dates

Study start
2010
Primary completion
2022
Study completion
2022
First posted
Sep 3, 2010
Registry last updated
Jan 26, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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