Genetic Test Based Risk Prediction of Early Calcific Aortic Valve Disease in Patients With Bicuspid Aortic Valve

NCT06153407 | Recruiting DMC

• 1 other identifier: 4-2023-1045
• Study Type: observational
• Target: 240
• Locations: 1 country
• Sites: 1

Brief Summary

This study is to elucidate the impact of germline mutations and clonal hematopoiesis (CHIP) on the progression of early aortic valve calcification in patients with bicuspid aortic valves. The study will be conducted over a recruitment period of one year and a follow-up observation period of two years. Considering a 2-year event rate and a 33% occurrence rate of clonal hematopoiesis, each group requires a minimum of 102 participants. Accounting for a 15% dropout rate, a total of 120 participants are needed for each group (type I error (α) = 5%, type II error (β) = 20%). Therefore, the total study population, including patients with normal aortic valve function, is set at 240 participants.

Conditions

Bicuspid Aortic Valve

Outcome Measures

Primary Outcomes (2)

• Presence of germline mutation

  2 years follow-up

• Clonal hematopoiesis of indeterminate potential (CHIP) mutation

  Clonal hematopoiesis of indeterminate potential (CHIP) is the presence of a clonally expanded hematopoietic stem cell caused by a leukemogenic mutation.

  2 years follow-up

Secondary Outcomes (1)

• Progression of aortic valve calcification

  2 years follow-up

Eligibility Criteria

• Age: 19 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patient who have bicuspid aortic valve

You may qualify if:

• Patients with confirmed bicuspid aortic valves based on cardiac imaging (echocardiography, CT, MRI) or surgical findings.
• Early aortic valve calcification group: Patients aged 20-80 with moderate or greater aortic valve stenosis/regurgitation.
• Normal functioning aortic valve group: Patients aged 20-80 with mild or less aortic valve stenosis/regurgitation.
• Patients who understand the purpose of the study and voluntarily consent to participate.

You may not qualify if:

• Patients with malignant neoplastic diseases or other conditions, such as cerebrovascular accidents, which predict survival of less than 6 months.
• Patients with unclear presence of bicuspid aortic valves.
• Patients with stage 3 or higher chronic kidney disease.
• Patients with other inherited cardiac conditions.
• Patients with cognitive impairment or hemodynamically unstable patients who have difficulty understanding the study content.

Sponsors & Collaborators

• Yonsei University: lead

Study Sites (1)

Division of Cardiology, Yonsei University Health System, Yonsei University College of Medicine

Seoul, 03722, South Korea

RECRUITING

MeSH Terms

Conditions

Bicuspid Aortic Valve Disease

Condition Hierarchy (Ancestors)

Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Aortic Valve Disease; Heart Valve Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Iksung Cho

  Division of Cardiology, Severance Cardiovascular Hospital, Yonsei University College of Medicine

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Iksung Cho

CONTACT

82-2-2228-8442; iksungcho@yuhs.ac

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 10, 2023
• First Posted: December 1, 2023
• Study Start: October 19, 2023
• Primary Completion (Estimated): October 1, 2027
• Study Completion (Estimated): October 1, 2028
• Last Updated: December 1, 2023

Record last verified: 2023-11

Data Sharing

• IPD Sharing: Will not share

Locations

KR (1)