Actively Recruiting

Age: 19Years - 80Years
All Genders
ID06153407

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

Led by Yonsei University · Updated on 2023-12-01

240

Participants Needed

1

Research Sites

52 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

Researchers are studying how genetic mutations and clonal hematopoiesis (CHIP) affect the early development of calcification in the aortic valve among patients with bicuspid aortic valves. This observational study aims to understand the progression of early aortic valve calcification by monitoring a total of 240 participants, including those with normal and abnormal valve function. The study is sponsored by Yonsei University and involves a recruitment period of one year followed by two years of follow-up observation. Participants will be divided into groups based on their valve function: those with moderate or greater aortic valve stenosis or regurgitation and those with mild or less valve dysfunction. The study does not involve any treatment but focuses on genetic testing and monitoring of valve changes. The total sample includes patients aged between 20 and 80 years, with careful attention to the presence of germline mutations and CHIP mutations over the two-year follow-up. During the study, participants will undergo cardiac imaging and genetic assessments to identify mutations and track the progression of valve calcification. Researchers will observe the presence of germline and CHIP mutations as the primary outcomes, and the progression of aortic valve calcification as a secondary outcome over two years. The study also includes ongoing safety monitoring and data collection to understand the genetic risk factors impacting valve disease progression.

CONDITIONS

Brief Title

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

Who Can Participate

Age: 19Years - 80Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Patients with confirmed bicuspid aortic valves based on cardiac imaging or surgical findings
  • Patients aged 20 to 80 with moderate or greater aortic valve stenosis or regurgitation (early calcification group)
  • Patients aged 20 to 80 with mild or less aortic valve stenosis or regurgitation (normal functioning valve group)
  • Patients who understand the study purpose and voluntarily consent to participate
Not Eligible

You will not qualify if you...

  • Patients with malignant neoplastic diseases or conditions predicting survival 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 who have difficulty understanding the study content

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

Diagnostic Evaluation

Duration - Initial assessment period

Participants undergo genetic testing and cardiac imaging to assess aortic valve condition and mutations.

1 visit (in-person)

Long-term Monitoring

Duration - 2 years

Participants are monitored over 2 years to observe the presence of genetic mutations and progression of aortic valve calcification.

Follow-up visits during 2-year period

Trial Site Locations

Total: 1 location

1

Division of Cardiology, Yonsei University Health System, Yonsei University College of Medicine

Seoul, South Korea, 03722

Actively Recruiting

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Research Team

I

Iksung Cho

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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