Genetic Test Based Risk Prediction of Early Calcific Aortic Valve Disease in Patients With Bicuspid Aortic Valve
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Bicuspid Aortic Valve. Basic parameters: 19 years — 80 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- South Korea
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Primary outcome measures
- Presence of germline mutation [Time frame: 2 years follow-up]
- Clonal hematopoiesis of indeterminate potential (CHIP) mutation [Time frame: 2 years follow-up]
Secondary outcome measures (1)
- Progression of aortic valve calcification [Time frame: 2 years follow-up]
Eligibility criteria
Inclusion criteria
- 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.
Exclusion criteria
- 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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
South Korea · 1 center
- Division of Cardiology, Yonsei University Health System, Yonsei University College of Medi — Seoul
Identifiers
NCT: NCT06153407 · 4-2023-1045