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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06153407

Enrollment

240

Registered

2023-12-01

Start date

2023-10-19

Completion date

2028-10-31

Last updated

2023-12-01

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

Conditions

Bicuspid Aortic Valve

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

19 Years to 80 Years

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
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)

Countries

South Korea

Contacts

Primary ContactIksung Cho

iksungcho@yuhs.ac82-2-2228-8442

Outcome results