Status:
RECRUITING
Acquirement of Clinical and Genomic Data to Diagnose in Rare Inherited Cardiomyopathy
Lead Sponsor:
Yonsei University
Conditions:
Cardiomyopathy
Whole Genome Sequencing
Eligibility:
All Genders
19+ years
Brief Summary
"Background Information Cardiomyopathy is one of the leading causes of heart failure. In cases where cardiomyopathy does not respond to guideline-directed medical therapy for heart failure, the diseas...
Detailed Description
"Study Design The investigator will collect data from patients diagnosed with cardiomyopathy and will utilize secondary, real-world patient data obtained from electronic medical records at participati...
Eligibility Criteria
Inclusion
- patients aged 19 years or older who have provided written consent for participation, have the capability to consent voluntarily and have been diagnosed with cardiomyopathy, as defined by one of the following criteria: -Ones with suspected genetic cardiomyopathy of unknown etiology, meeting at least one of the following conditions: i) Patients with idiopathic cardiomyopathy, for whom no clear secondary causes (e.g., history of hypertension, alcohol abuse, or chemotherapy) can be identified, and in whom a genetic etiology is strongly suspected.
- ii) Patients who have previously undergone genetic testing using an NGS panel, but no pathogenic variants were identified, and further evaluation with whole genome sequencing (WGS) is warranted.
- iii) Patients diagnosed with cardiomyopathy before the age of 50, without known contributing factors such as hypertension or excessive alcohol consumption, raising a strong suspicion of a genetic cause.
- Patients with a family history of genetic cardiomyopathy, defined as having at least one first-degree relative (parent, sibling, or child) diagnosed with the same type of cardiomyopathy, confirming a familial genetic pattern.
Exclusion
- Patients with confirmed ischemic cardiomyopathy (when stenosis of 75% or more of major coronary arteries is confirmed on coronary artery imaging or ischemic cardiomyopathy findings such as transmural LGE on cardiac MRI)
- Heart failure with other etiologies (e.g., valvular heart disease, endocrine disease)
Key Trial Info
Start Date :
October 10 2023
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
August 22 2028
Estimated Enrollment :
560 Patients enrolled
Trial Details
Trial ID
NCT06948344
Start Date
October 10 2023
End Date
August 22 2028
Last Update
May 13 2025
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
Division of Cardiology, Severance Cardiovascular hospital Department of Internal Medicine, Yonsei University College of Medicine
Seoul, South Korea