Identification of Genetic Causes of Calcific Aortic Valve Disease

Sponsor

Beth Israel Deaconess Medical Center (Other)

Overall Status

Recruiting

CT.gov ID

NCT04149600

Collaborator

Brigham and Women's Hospital (Other)

1,000

Enrollment

Location

105.1

Anticipated Duration (Months)

9.5

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

This study aims to identify the molecular genetic causes of the variability in development of calcific aortic valve disease in bicuspid and tricuspid aortic valves and their associated aortic dilation.

Condition or Disease	Intervention/Treatment	Phase
Calcific Aortic Stenosis Calcific Aortic Stenosis - Bicuspid Valve Aortic Valve Disease Aortic Valve Calcification Aortic Diseases Aortic Aneurysm Aortic Valve Cusp Abnormality Aortic Valve Disease Mixed Aortic Valve Insufficiency	Procedure: Patients scheduled to undergo aortic valve replacement or aortic surgery at BIDMC will be approached for participation in this study.

Study Design

Study Type:

Observational

Anticipated Enrollment :

1000 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Identification of Genetic Causes of Calcific Aortic Valve Disease

Actual Study Start Date :

Sep 25, 2018

Anticipated Primary Completion Date :

Jun 30, 2027

Anticipated Study Completion Date :

Jun 30, 2027

Arms and Interventions

Arm	Intervention/Treatment
Bicuspid aortic valve We wish to investigate the etiology of calcific aortic valve disease, and aortic dilation or aneurysm in patients with a bicuspid aortic valve undergoing aortic valve replacement or aortic surgery.	Procedure: Patients scheduled to undergo aortic valve replacement or aortic surgery at BIDMC will be approached for participation in this study. Adult patients undergoing aortic valve replacement (AVR) and/or aortic resection will be enrolled.
Tricuspid aortic valve Data and samples will be compared using a control group comprised of patients with a tricuspid aortic valve undergoing aortic surgery.	Procedure: Patients scheduled to undergo aortic valve replacement or aortic surgery at BIDMC will be approached for participation in this study. Adult patients undergoing aortic valve replacement (AVR) and/or aortic resection will be enrolled.

Arm

Intervention/Treatment

Bicuspid aortic valve

We wish to investigate the etiology of calcific aortic valve disease, and aortic dilation or aneurysm in patients with a bicuspid aortic valve undergoing aortic valve replacement or aortic surgery.

Procedure: Patients scheduled to undergo aortic valve replacement or aortic surgery at BIDMC will be approached for participation in this study.

Adult patients undergoing aortic valve replacement (AVR) and/or aortic resection will be enrolled.

Tricuspid aortic valve

Data and samples will be compared using a control group comprised of patients with a tricuspid aortic valve undergoing aortic surgery.

Procedure: Patients scheduled to undergo aortic valve replacement or aortic surgery at BIDMC will be approached for participation in this study.

Adult patients undergoing aortic valve replacement (AVR) and/or aortic resection will be enrolled.

Outcome Measures

Primary Outcome Measures

Identification of expression signatures of aortic valve development and calcification in the macroscopically normal and abnormal portions of aortic valves excised during aortic valve replacement. [8 years]
We will take a portion of the aortic valve and/or aortic tissue that is routinely excised for aortic valve or aortic replacement for expression analyses and generation of fibroblast cell lines. In collaboration with the Department of Pathology, we have established methods to take sufficient "normal" and abnormal tissue while allowing formal routine pathological evaluation. All tissue samples for expression analysis will be transported in iced RNALater and later frozen in a -80°C research freezer, prior to next generation sequencing. We may use tissue samples to develop cell lines for indefinite use.

Eligibility Criteria

Criteria

Ages Eligible for Study:

20 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

Inclusion Criteria:

Patients with a plan to undergo elective aortic valve replacement and/or ascending aortic surgery

Exclusion Criteria:

Age < 20 years
Unable/unwilling to consent
History of aortic valve replacement or transcatheter aortic valve replacement (TAVR)
History of endocarditis
History of rheumatic fever
History of chest radiotherapy
History of organ transplant