Collecting clinical and genomic data to diagnose rare inherited cardiomyopathy

Acquirement of Clinical and Genomic Data to Diagnose in Rare Inherited Cardiomyopathy

This study is trying to collect health information and genetic data from people with cardiomyopathy to better understand and diagnose this heart condition, especially when regular tests don’t give clear results.

Quick facts

• Study type: Observational
• Enrollment: 560 (estimated)
• Ages: 19 Years and up
• Sex: All
• Sponsor: Yonsei University (Academic / other)
• Drugs / interventions: chemotherapy
• Locations: 1 site (Seoul)
• Trial ID: NCT06948344 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Ideal candidates include patients aged 19 years or older diagnosed with cardiomyopathy, particularly those with suspected genetic causes or previous inconclusive genetic testing.

Not a fit: Patients with cardiomyopathy due to clear secondary causes or those under 19 years of age may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to more accurate diagnoses and better management of rare inherited cardiomyopathy, potentially improving patient outcomes.

How similar studies have performed: Other studies have shown promise in using genomic data to diagnose cardiomyopathy, suggesting that this approach could be beneficial.

Eligibility criteria

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 this trial is running

Seoul

• 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.

Conditions Cardiomyopathy; Whole Genome Sequencing