Genetic Test Based Risk Prediction of Early Calcific Aortic Valve Disease in Patients With Bicuspid Aortic Valve
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 240
- 试验地点
- 1
- 主要终点
- Presence of germline mutation
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 19 Years 至 80 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
结局指标
主要结局
Presence of germline mutation
时间窗: 2 years follow-up
Clonal hematopoiesis of indeterminate potential (CHIP) mutation
时间窗: 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.
次要结局
- Progression of aortic valve calcification(2 years follow-up)