Identification of Genetic Causes of Calcific Aortic Valve Disease

Aortic Valve Disease Clinical Trial

Official title:

Identification of Genetic Causes of Calcific Aortic Valve Disease

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04149600
• Other study ID #: 2018P000380
• Status: Recruiting
• Start date: September 25, 2018
• Est. completion date: June 30, 2027

Study information

• Verified date: November 2023
• Source: Beth Israel Deaconess Medical Center
• Contact: Simon C Robson, MD, PhD
• Phone: 617-735-2921
• Email: srobson[@]bidmc.harvard.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1000
• Est. completion date: June 30, 2027
• Est. primary completion date: June 30, 2027
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 20 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Aortic Aneurysm
• Aortic Diseases
• Aortic Valve Calcification
• Aortic Valve Cusp Abnormality
• Aortic Valve Disease
• Aortic Valve Disease Mixed
• Aortic Valve Insufficiency
• Aortic Valve Stenosis
• Calcific Aortic Stenosis
• Calcific Aortic Stenosis - Bicuspid Valve
• Calcinosis
• Constriction, Pathologic
• Heart Defects, Congenital
• Heart Valve Diseases

Intervention

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.

Locations

Country	Name	City	State
United States	Beth Israel Deaconess Medical Center	Boston	Massachusetts

Sponsors (2)

Lead Sponsor	Collaborator
Beth Israel Deaconess Medical Center	Brigham and Women's Hospital

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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