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NCT Number: NCT06153407

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

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.

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Key information

Conditions

Bicuspid Aortic Valve Aortic Valve Disease Bicuspid Aortic Valve Disease Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Heart Defects, Congenital Heart Diseases Heart Valve Diseases

Age range

19 year–80 year

Sex eligibility

All sexes

Study type

Observational

Primary location

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

Seoul, 03722, South Korea

Location status: Recruiting

Location contact

Iksung Cho

CONTACT

[email protected]

82-2-2228-8442

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Presence of germline mutation

    Time frame: 2 years follow-up

  2. Clonal hematopoiesis of indeterminate potential (CHIP) mutation

    Time frame: 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 outcomes

  1. Progression of aortic valve calcification

    Time frame: 2 years follow-up

    Progression of aortic valve calcification measured by computed tomography (AV calcium score) or Echocardiography (Progression of AS/AR)

Study contacts

Contact information is provided by the study sponsor or research team.

Iksung Cho

CONTACT

[email protected]

82-2-2228-8442

Sponsors and collaborators

Lead sponsor

Yonsei University

Other

Registry information

Important dates

Study start
2023
Primary completion
2027
Study completion
2028
First posted
Dec 1, 2023
Registry last updated
Dec 1, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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