CardiomyopathyNCT06948344
Acquirement of Clinical and Genomic Data to Diagnose in Rare Inherited Cardiomyopathy
An observational study of Cardiomyopathy and Whole Genome Sequencing, run by Yonsei University at 1 site in South Korea.
Trial 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 disease may progress to a stage where heart transplantation is the only viable treatment option. Read more about this study
- Who is it for?
- Ages 19 years and older
- Conditions the study is for
- Cardiomyopathy, Whole Genome Sequencing
- How many people
- 560 participants
- Where
- 1 siteSouth Korea
- Study dates
- 10 Oct 2023to 22 Aug 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 19 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients with cardiomyopathy in whom a genetic etiology is strongly suspected and no pathogenic variants have been identified, or those with at least one first-degree relative diagnosed with the same cardiomyopathy subtype
Who may be able to join
- 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.
- 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.
- 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.
Who cannot join
- 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)
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Jaewon Oh, M.D. Ph.D. contact
South Korea1 site, 1 recruiting
- Recruiting
Division of Cardiology, Severance Cardiovascular hospital Department of Internal Medicine, Yonsei University College of Medicine
Seoul
Jaewon Oh, M.D., Ph.D., +82-10-6273-0615, ericjcoh@yuhs.ac
About this study
"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 disease may progress to a stage where heart transplantation is the only viable treatment option. According to the 2022 Korean Organ Transplant Registry (KOTRY) report, cardiomyopathy accounted for approximately 65% of heart transplant indications in Korea, making it one of the most challenging unresolved issues in modern cardiology. Furthermore, cardiomyopathy is associated with a high risk of sudden cardiac death due to ventricular fibrillation or ventricular tachycardi and implantable cardioverter-defibrillators are often recommended as a preventive measure. Given that sudden cardiac death frequently occurs in young and middle-aged individuals, it is a major public health concern in developed countries such as North America and Western/Northern Europe, prompting ongoing societal and medical efforts to reduce its burden. The risk of sudden cardiac death imposes a persistent psychological burden on family members of patients with cardiomyopathy. Because sudden death can also occur in children and adolescents, current clinical guidelines recommend early cardiac evaluation and genetic counseling for family members of affected individuals.
This study seeks to overcome the current limitations in the genetic diagnosis of cardiomyopathy, including the low diagnostic yield of currently available gene panels. To date, most genetic data on cardiomyopathy have been derived from Western populations. There is a significant lack of population-specific genomic data for East Asians, particularly Koreans, making it difficult to interpret the results of genetic testing in Korean patients.
Read more
By developing bioinformatics algorithms that comprehensively analyze whole genome sequencing (WGS) data, including single nucleotide variants (SNVs), insertions/deletions (indels), and structural variations, this study aims to generate a reference dataset tailored to the Korean population. This will directly improve the genetic diagnosis of cardiomyopathy in Korean patients. Additionally, by identifying novel pathogenic variants through WGS, this study may elucidate new disease mechanisms underlying cardiomyopathy. These findings could provide a theoretical basis for developing novel diagnostic biomarkers, therapeutic targets, and even gene-based therapies. The present study is part of a multi-phase national research project supported by the Korea Disease Control and Prevention Agency and the Korea National Institute of Health, conducted as a registry cohort titled the ""Korean Cardiomyopathy Cohort (KCC)"".
Objectives This study aims to establish a diagnostic research framework to elucidate the genetic architecture of rare inherited cardiomyopathies through comprehensive analysis of whole genome sequencing data, with the goal of identifying novel diagnostic approaches
Read the 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 participating institutions.
Study Methods
- Blood samples will be collected after obtaining informed consent from eligible patients during outpatient visits or hospitalization. Informed consent will be obtained in a private setting to ensure patient confidentiality, with sufficient explanation provided. The study will follow standard diagnostic and treatment guidelines commonly applied to heart failure patients in Korea. Demographic information, clinical characteristics, imaging data (echocardiography, cardiac MRI), laboratory findings, and cardiovascular events will be documented separately using a case report form.
- Following informed consent, approximately 5-10 mL of whole blood will be drawn on the same day or during the subsequent outpatient visit. The sample will be transported to SCL on the day of collection, where plasma and buffy coat will be separated and stored.
- Genomic, laboratory, and imaging data will be integrated for comprehensive statistical analysis.
- All study data will be stored on password-protected computers with restricted access. No personal identifiers will be included to ensure data confidentiality."
- Conditions
- Cardiomyopathy, Whole Genome Sequencing
- Medical subject headings
- Cardiomyopathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| WGS cohort | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Establishing genomic profiles of rare inherited cardiomyopathies
This study aims to establish a diagnostic research framework to elucidate the genetic architecture of rare inherited cardiomyopathies through comprehensive analysis of whole genome sequencing data
Measured: At the time of enrollment
Secondary outcomes (2)
Occurrence of adjudicated cardiovascular event
Clinical events were defined to encompass cardiovascular-related death, myocardial infarction, rehospitalization due to heart failure, malignant ventricular arrhythmias, and other major adverse cardiac events.
Patients without a specific endpoint event were censored at the last date the patient was known to be free of the event or at the end of the planned follow up period, whichever was earlier
Measured: From enrollment until the first occurrence of adjudicated clinical events, assessed up to 5 years
Occurrence of adjudicated cardiovascular event
Clinical events were defined to encompass cardiovascular-related death, myocardial infarction, rehospitalization due to heart failure, malignant ventricular arrhythmias, and other major adverse cardiac events.
Patients without a specific endpoint event were censored at the last date the patient was known to be free of the event or at the end of the planned follow up period, whichever was earlier
Measured: up to 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Apr 2025
- Study start10 Oct 2023
- Primary completion30 Jun 2028 (estimated)
- Study completion22 Aug 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for CardiomyopathyStudies of the same condition, open and under way.
- More trials run by Yonsei UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 560 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Yonsei University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Byung-Su Yoo, MD, PhD, Principal investigator, Wonju Severance Christian HospitalJin-Oh Choi, MD, PhD, Principal investigator, Samsung Medical CenterHyun-jai Cho, MD, Principal investigator, Seoul National University HospitalJae Young Cho, MD, Principal investigator, Chonnam National University HospitalSoo Yong Lee, MD, PhD, Principal investigator, Pusan National University Yangsan HospitalJu-Hee Lee, MD, Principal investigator, Chungbuk National UniversityJunho Hyun, MD, MSc, Principal investigator, Asan Medical CenterMinjae Yoon, MD, Principal investigator, Seoul National University Bundang Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06948344
- Sponsor's protocol ID
- 4-2023-0855
- Status last verified
- May 2025
- First submitted
- 15 Apr 2025
- Last updated
- 13 May 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Access to trial IPD can be requested by qualified researchers engaging in independent scientific research, and will be provided following review and approval of a research proposal and Statistical Analysis Plan (SAP) and execution of a Data Sharing Agreement (DSA). For more information or to submit a request, please contact ericjcoh@yuhs.ac
Study at a glance
From the registry record, last updated by the sponsor on 13 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Acquirement of Clinical and Genomic Data to Diagnose in Rare Inherited Cardiomyopathy
- ClinicalTrials.gov ID
- NCT06948344
- Acronym / sponsor ID
- 4-2023-0855
- Conditions
- Cardiomyopathy, Whole Genome Sequencing
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 560 participants (estimated)
- Lead sponsor
- Yonsei UniversityUniversity, hospital or other
- Study start
- 10 Oct 2023 (actual)
- Primary completion
- 30 Jun 2028 (estimated)
- Study completion
- 22 Aug 2028 (estimated)
- First posted
- 29 Apr 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
"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 disease may progress to a stage where heart transplantation is the only viable treatment option. According to the 2022 Korean Organ Transplant Registry (KOTRY) report, cardiomyopathy accounted for approximately 65% of heart transplant indications in Korea, making it one of the most challenging unresolved issues in modern cardiology. Furthermore, cardiomyopathy is associated with a high risk of sudden cardiac death due to ventricular fibrillation or ventricular tachycardi and implantable cardioverter-defibrillators are often recommended as a preventive measure. Given that sudden cardiac death frequently occurs in young and middle-aged individuals, it is a major public health concern in developed countries such as North America and Western/Northern Europe, prompting ongoing societal and medical efforts to reduce its burden. The risk of sudden cardiac death imposes a persistent psychological burden on family members of patients with cardiomyopathy. Because sudden death can also occur in children and adolescents, current clinical guidelines recommend early cardiac evaluation and genetic counseling for family members of affected individuals.
This study seeks to overcome the current limitations in the genetic diagnosis of cardiomyopathy, including the low diagnostic yield of currently available gene panels. To date, most genetic data on cardiomyopathy have been derived from Western populations. There is a significant lack of population-specific genomic data for East Asians, particularly Koreans, making it difficult to interpret the results of genetic testing in Korean patients.
By developing bioinformatics algorithms that comprehensively analyze whole genome sequencing (WGS) data, including single nucleotide variants (SNVs), insertions/deletions (indels), and structural variations, this study aims to generate a reference dataset tailored to the Korean population. This will directly improve the genetic diagnosis of cardiomyopathy in Korean patients. Additionally, by identifying novel pathogenic variants through WGS, this study may elucidate new disease mechanisms underlying cardiomyopathy. These findings could provide a theoretical basis for developing novel diagnostic biomarkers, therapeutic targets, and even gene-based therapies. The present study is part of a multi-phase national research project supported by the Korea Disease Control and Prevention Agency and the Korea National Institute of Health, conducted as a registry cohort titled the ""Korean Cardiomyopathy Cohort (KCC)"".
Objectives This study aims to establish a diagnostic research framework to elucidate the genetic architecture of rare inherited cardiomyopathies through comprehensive analysis of whole genome sequencing data, with the goal of identifying novel diagnostic approaches
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 participating institutions.
Study Methods
- Blood samples will be collected after obtaining informed consent from eligible patients during outpatient visits or hospitalization. Informed consent will be obtained in a private setting to ensure patient confidentiality, with sufficient explanation provided. The study will follow standard diagnostic and treatment guidelines commonly applied to heart failure patients in Korea. Demographic information, clinical characteristics, imaging data (echocardiography, cardiac MRI), laboratory findings, and cardiovascular events will be documented separately using a case report form.
- Following informed consent, approximately 5-10 mL of whole blood will be drawn on the same day or during the subsequent outpatient visit. The sample will be transported to SCL on the day of collection, where plasma and buffy coat will be separated and stored.
- Genomic, laboratory, and imaging data will be integrated for comprehensive statistical analysis.
- All study data will be stored on password-protected computers with restricted access. No personal identifiers will be included to ensure data confidentiality."
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| WGS cohort | – | – |
Who may qualify
- Ages
- 19 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with cardiomyopathy in whom a genetic etiology is strongly suspected and no pathogenic variants have been identified, or those with at least one first-degree relative diagnosed with the same cardiomyopathy subtype
Key inclusion criteria (4 listed)
- 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.
- 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.
- 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.
Key exclusion criteria (2 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Establishing genomic profiles of rare inherited cardiomyopathies
Time frame: At the time of enrollment
This study aims to establish a diagnostic research framework to elucidate the genetic architecture of rare inherited cardiomyopathies through comprehensive analysis of whole genome sequencing data
2 secondary outcomes
Occurrence of adjudicated cardiovascular event
Time frame: From enrollment until the first occurrence of adjudicated clinical events, assessed up to 5 years
Occurrence of adjudicated cardiovascular event
Time frame: up to 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 May 2025.
- Individual participant dataSharing planned: Undecided. Access to trial IPD can be requested by qualified researchers engaging in independent scientific research, and will be provided following review and approval of a research proposal and Statistical Analysis Plan (SAP) and execution of a Data Sharing Agreement (DSA). For more information or to submit a request, please contact ericjcoh@yuhs.ac
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Jaewon Oh, M.D. Ph.D. contact
Byung-Su Yoo, MD, PhD principal investigator
Wonju Severance Christian Hospital
Jin-Oh Choi, MD, PhD principal investigator
Samsung Medical Center
Hyun-jai Cho, MD principal investigator
Seoul National University Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cardiomyopathy and Whole Genome Sequencing, run by Yonsei University at 1 site in South Korea.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 13 May 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in South Korea. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Jaewon Oh, M.D. Ph.D. (ericjcoh@yuhs.ac), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Establishing genomic profiles of rare inherited cardiomyopathies (time frame: At the time of enrollment). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 May 2025.