Collecting clinical and genomic data to diagnose rare inherited cardiomyopathy

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to gather clinical and genomic data from patients diagnosed with cardiomyopathy, a leading cause of heart failure. It involves collecting blood samples and utilizing electronic medical records to document demographic information, clinical characteristics, imaging data, and laboratory findings. The study will integrate genomic, laboratory, and imaging data for comprehensive statistical analysis, following standard diagnostic and treatment guidelines. The goal is to improve understanding and diagnosis of genetic cardiomyopathy, particularly in cases where traditional testing has not provided clear answers.

Why it matters

Who can join: the full rules

Inclusion Criteria:

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 Criteria:

* 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)

Where it's running

• Division of Cardiology, Severance Cardiovascular hospital Department of Internal Medicine, Yonsei University College of Medicine
  Seoul, South Korea Recruiting

Study contacts

• Principal investigator: Byung-Su Yoo, MD, PhD — Wonju Severance Christian Hospital
• Study coordinator: Jaewon Oh, M.D. Ph.D.
• Email: ericjcoh@yuhs.ac

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.