Identification of Genetic Causes of Calcific Aortic Valve Disease

NCT04149600 | Active Not Recruiting

• 1 other identifier: 2018P000380
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Outcome Measures

Primary Outcomes (1)

• 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.

  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.

  8 years

Study Arms (2)

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.

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.

Interventions

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

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

Bicuspid aortic valve; Tricuspid aortic valve

Eligibility Criteria

• Age: 20 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The investigators wish to identify the molecular genetic causes of the variability in development of calcific aortic valve disease and aortic dilation in patients with a plan to undergo elective aortic valve replacement and/or ascending aortic surgery at BIDMC.

You may qualify if:

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

You may not qualify if:

• 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

Sponsors & Collaborators

• Beth Israel Deaconess Medical Center: lead
• Brigham and Women's Hospital: collaborator

Study Sites (1)

Beth Israel Deaconess Medical Center

Boston, Massachusetts, 02215, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Broadly, in order to perform the study, we will collect DNA for genotyping and "discarded" aortic valve and aortic tissue.

MeSH Terms

Conditions

Aortic Valve, Calcification of; Aortic Valve Disease; Aortic Diseases; Aortic Aneurysm; Aortic Valve Insufficiency

Condition Hierarchy (Ancestors)

Heart Valve Diseases; Heart Diseases; Cardiovascular Diseases; Vascular Diseases; Aneurysm

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Anaesthesia

Study Record Dates

• First Submitted: October 31, 2019
• First Posted: November 4, 2019
• Study Start: September 25, 2018
• Primary Completion (Estimated): June 30, 2027
• Study Completion (Estimated): June 30, 2027
• Last Updated: May 30, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)