Loss of Y Chromosome in Aortic Stenosis

NCT06595407 | Recruiting

• 1 other identifier: 301597
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

Brief Summary

The most common heart valve disease in humans is aortic stenosis which is a critical narrowing of the valve through which the heart has to pump blood to the rest of the body. This condition occurs in 2-3% of adults over 65 years of age and when it progresses to a severe stage leads to heart failure and need for valve replacement procedures (including surgery and catheter-based replacement). Aortic stenosis has a strong male predominance. The purpose of this study is to evaluate whether loss of Y-chromosome from circulating blood cells in males, which has been associated with TGF-beta-related fibrosis of other organs, is associated with the development of aortic stenosis.

Conditions

Aortic Stenosis

Keywords

Aortic stenosis; Y-chromosome; Transforming growth factor-beta; Echocardiography

Outcome Measures

Primary Outcomes (1)

• Loss of Y chromosome

  This is a cross-sectional case-control study where the outcome measure is the percentage of circulating cells that have loss-of-Y chromosome

  1 day

Study Arms (2)

Males with aortic stenosis

Males with mild or greater aortic stenosis (aortic valve area \<1.5 cm2) due to calcific non-congenital aortic stenosis.

Diagnostic Test: Blood analysis for loss-of-Y chromosome

Control males without aortic stenosis

Males without any diagnosis for aortic stenosis (matched for aortic stenosis group).

Diagnostic Test: Blood analysis for loss-of-Y chromosome

Interventions

Blood analysis for loss-of-Y chromosome DIAGNOSTIC_TEST

Analysis for the percentage of circulating leukocytes with loss-of-y chromosome

Control males without aortic stenosis; Males with aortic stenosis

Eligibility Criteria

• Age: 40 Years+
• Sex: male
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Males with calcific, non-congenital aortic stenosis and age-matched males without aortic stenosis.

You may qualify if:

• Aortic stenosis (valve area \&lt;1.5cm2)

You may not qualify if:

• Bicuspid aortic valve
• History of radiation to chest
• Inflammatory (autoimmune, rheumatologic) disease associated with aortic stenosis
• Active cancer

Sponsors & Collaborators

• University of Virginia: lead

Study Sites (1)

University of Virginia

Charlottesville, Virginia, 22903, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples containing leukocytes

MeSH Terms

Conditions

Aortic Valve Stenosis; Camurati-Engelmann Syndrome

Interventions

Hematologic Tests

Condition Hierarchy (Ancestors)

Aortic Valve Disease; Heart Valve Diseases; Heart Diseases; Cardiovascular Diseases; Ventricular Outflow Obstruction; Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques

Central Study Contacts

Jonathan R Lindner, MD

CONTACT

434 2979442; jlindner@virginia.edu

Bethany Gholson

CONTACT

4342979444; bethany.gholson@uvahealth.org

Study Design

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

Study Record Dates

• First Submitted: September 10, 2024
• First Posted: September 19, 2024
• Study Start: August 15, 2024
• Primary Completion: December 31, 2025
• Study Completion: June 1, 2026
• Last Updated: September 19, 2024

Record last verified: 2024-09

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, ICF
• Access Criteria: Open access

Locations

US (1)