Identification of Genetic Causes of Calcific Aortic Valve Disease

Recruiting

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

• Registration Number: NCT04149600
• Lead Sponsor: Beth Israel Deaconess Medical Center

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2018-09-25
• Study First Submitted: 2019-10-31
• Study First Submitted QC: 2019-10-31
• Study First Posted: 2019-11-04
• Status Verified: 2023-11
• Last Update Submitted: 2023-11-06
• Last Update Posted: 2023-11-07
• Primary Completion: 2027-06-30
• Study Completion: 2027-06-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1000

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Bicuspid aortic valve	Patients scheduled to undergo aortic valve replacement or aortic surgery at BIDMC will be approached for participation in this study.	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.
Tricuspid aortic valve	Patients scheduled to undergo aortic valve replacement or aortic surgery at BIDMC will be approached for participation in this study.	Data and samples will be compared using a control group comprised of patients with a tricuspid aortic valve undergoing aortic surgery.

Primary Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (1)

Beth Israel Deaconess Medical Center; 🇺🇸 Boston, Massachusetts, United States