Identification of Genetic Causes of Calcific Aortic Valve Disease

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04149600

Enrollment

1000

Registered

2019-11-04

Start date

2018-09-25

Completion date

2027-06-30

Last updated

2026-06-11

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Aortic Aneurysm, Aortic Diseases, Aortic Valve Calcification, Aortic Valve Cusp Abnormality, Aortic Valve Disease, Aortic Valve Disease Mixed, Aortic Valve Insufficiency, Calcific Aortic Stenosis, Calcific Aortic Stenosis - Bicuspid Valve

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.

Interventions

PROCEDUREPatients 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.

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

20 Years to No maximum

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

Design outcomes

Primary

Measure	Time frame	Description
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.

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Jun 12, 2026