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

Recruiting

• Conditions: Bicuspid Aortic Valve

• Registration Number: NCT06153407
• Lead Sponsor: Yonsei University

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2023-10-19
• Status Verified: 2023-11
• Study First Submitted: 2023-11-10
• Study First Submitted QC: 2023-11-30
• Last Update Submitted: 2023-11-30
• Study First Posted: 2023-12-01
• Last Update Posted: 2023-12-01
• Primary Completion: 2027-10
• Study Completion: 2028-10

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 240

Inclusion Criteria

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

Exclusion Criteria

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Presence of germline mutation	2 years follow-up
Clonal hematopoiesis of indeterminate potential (CHIP) mutation	2 years follow-up	Clonal hematopoiesis of indeterminate potential (CHIP) is the presence of a clonally expanded hematopoietic stem cell caused by a leukemogenic mutation.

Secondary Outcome Measures

Name	Time	Method
Progression of aortic valve calcification	2 years follow-up	Progression of aortic valve calcification measured by computed tomography (AV calcium score) or Echocardiography (Progression of AS/AR)

Trial Locations

Locations (1)

Division of Cardiology, Yonsei University Health System, Yonsei University College of Medicine; 🇰🇷 Seoul, Korea, Republic of