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

Bicuspid Aortic Valve Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06153407
• Other study ID #: 4-2023-1045
• Status: Recruiting
• Start date: October 19, 2023
• Est. completion date: October 2028

Study information

• Verified date: November 2023
• Source: Yonsei University
• Contact: Iksung Cho
• Phone: 82-2-2228-8442
• Email: iksungcho[@]yuhs.ac
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 240
• Est. completion date: October 2028
• Est. primary completion date: October 2027
• Accepts healthy volunteers: No
• Gender: All
• Age group: 19 Years to 80 Years

Eligibility

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.

Related Conditions & MeSH terms

• Aortic Valve Disease
• Bicuspid Aortic Valve
• Bicuspid Aortic Valve Disease
• Heart Valve Diseases

Locations

Country	Name	City	State
Korea, Republic of	Division of Cardiology, Yonsei University Health System, Yonsei University College of Medicine	Seoul

Sponsors (1)

Lead Sponsor	Collaborator
Yonsei University

Country where clinical trial is conducted

Korea, Republic of, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Presence of germline mutation		2 years follow-up
Primary	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	Progression of aortic valve calcification	Progression of aortic valve calcification measured by computed tomography (AV calcium score) or Echocardiography (Progression of AS/AR)	2 years follow-up