Dilated CardiomyopathyNCT04638621
Dilated Cardiomyopathy-Cardiac Magnetic Resonance (DCM-CMR) Ancillary Study
An observational study of Dilated Cardiomyopathy, run by Ohio State University at 1 site in United States.
Trial summary
The Dilated Cardiomyopathy-Cardiac Magnetic Resonance (DCM-CMR) Study is an ancillary study from the parent study, DCM Precision Medicine Study. The rationale for the DCM-CMR study is to leverage cardiac magnetic resonance (CMR) imaging to detect earliest findings of DCM in the at-risk family members enrolled into the… Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Dilated Cardiomyopathy
- How many people
- 650 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Apr 2021to Dec 2026
- 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 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: 650 FDRs of probands from the parent study (DCM Precision Medicine Study) with no contraindication to CMR with contrast.
Who may be able to join
- The FDR's proband was enrolled in the DCM Precision Medicine Study at 1 of 9 participating sites, or exceptions granted by study PI.
- The FDR's proband has had one or more variants identified, including P, LP and VUS.
- The FDR is able report to one of the participating sites for study enrollment.
- The FDR has no current contraindication for CMR (glomerular filtration rate (GFR) <30 mL/min/1.73 m2, non-compatible device implant, or allergy to gadolinium contrast).
- The FDR has had no prior heart transplant.
- The FDR is ≥18 years of age.
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- All races/ethnicity
- Ability to give informed consent.
- Ability to communicate in English.
- Subject is not pregnant (CMR may be conducted 3-6 months post delivery)
- Willingness to participate in a family-based study (subject willing to interact with OSU).
Who cannot join
- Coronary artery disease (CAD) causing ischemic cardiomyopathy (> 50% narrowing, any major epicardial coronary artery).
- Primary valvular disease.
- Adriamycin or other cardiotoxic drug exposure.
- Other forms of cardiomyopathy: Hypertrophic, Restrictive, or Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy.
- Congenital heart disease.
- Other detectable causes of dilated cardiomyopathy, including sarcoid and hemochromatosis.
- Other active multisystem disease, even if very rare, that may plausibly cause DCM (e.g., hypereosinophilic syndrome, cardiac involvement with connective tissue disease, Loeffler's endocarditis, endomyocardial fibrosis, etc) are excluded. Please call the PI to discuss if uncertain or not clear.
- Severe and untreated or untreatable hypertension (systolic blood pressures routinely greater than 180 mm Hg and/or diastolic blood pressures greater than 120 mm Hg, and if resistant to multidrug treatment). This includes profound hypertension associated with other multisystem disease (e.g., scleroderma, other vasculitides, etc).
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Precision Medicine for Dilated Cardiomyopathy-Cardiac Magnetic Resonance to Identify Early Family Phenotypes
The Dilated Cardiomyopathy-Cardiac Magnetic Resonance (DCM-CMR) Study is an ancillary study from the parent study, DCM Precision Medicine Study. The rationale for the DCM-CMR study is to leverage cardiac magnetic resonance (CMR) imaging to detect earliest findings of DCM in the at-risk family members enrolled into the parent study.
Read the detailed description
Dilated cardiomyopathy of unknown cause (DCM) is a major public health problem affecting more than a million people in the U.S. Most DCM is now known to have an underlying genetic basis. First-degree relatives (FDRs) of an individual with DCM are considered to be genetically at risk, particularly if they carry variants classified as pathogenic (P), likely pathogenic (LP) or uncertain significance (VUS) in DCM genes. Practice guidelines recommend that these FDRs undergo serial imaging because prompt intervention may avert advanced disease. While tissue damage is already well underway when DCM is manifest, myocardial tissue changes, termed "pre-DCM" herein, are known to precede adverse changes in myocardial structure and function. The investigators central hypothesis states that cardiac magnetic resonance (CMR) imaging may detect pre-DCM in individuals with increased genetic risk by identifying myocardial tissue changes prior to myocardial structural and functional changes. CMR measures of myocardial tissue characteristics, including late gadolinium enhancement and myocardial T1 mapping, have been histopathologically validated and have established diagnostic and prognostic value in DCM. Thus, the investigators specific hypotheses state that adverse CMR-based myocardial tissue characteristics will be associated with (1) A higher burden (number) of relevant variants (P, LP, VUS) in established DCM genes; and (2) Subsequent adverse changes in measures of cardiac structure and function. The investigators propose to leverage the DCM Precision Medicine Study, a multisite DCM Consortium study now with 1230 DCM patients (probands), balanced for race and sex, and their FDRs, most with no history of DCM. FDRs are cascade tested for relevant variants (P, LP, VUS) in DCM genes identified in probands. The investigators aim to (1) Estimate the associations between CMR-based myocardial tissue characteristics and the number (burden) of the proband's variants in DCM genes in at-risk FDRs. In 650 FDRs of probands with LP/P variants and/or VUSs, CMR scans will be completed at 9 participating DCM Consortium sites. The association between CMR-based myocardial tissue characteristics and the number of the proband's variants of each class (LP/P, VUS) carried by an at-risk FDR in a particular age group will be evaluated, adjusting for biologically relevant covariates. The investigators will also (2) Estimate the association between CMR-based myocardial tissue characteristics and subsequent changes in measures of cardiac structure and function in FDRs with normal baseline left-ventricular size and function. FDRs examined in Aim 1 will receive a second CMR exam 2.5 years after their baseline exam. The investigators will estimate the covariate-adjusted associations between baseline myocardial tissue characteristics and subsequent changes in CMR-derived measures of cardiac structure and function in groups defined by the most deleterious of the proband's variants carried (none, VUS, or LP/P). This study will validate a CMR-derived "pre-DCM" phenotype for FDRs who carry P or LP variants (established risk), and also provide preliminary evidence that some VUSs are biologically relevant.
- Conditions
- Dilated Cardiomyopathy
- Medical subject headings
- Cardiomyopathy, Dilated
What is being measured
The primary outcome is the main question the study is designed to answer.
The association between CMR-derived tissue characteristics and the number (burden) of the proband's variants in DCM genes in at-risk first-degree relatives
The burden of likely pathogenic or pathogenic variants in DCM genes in first-degree relatives and the association with worse values of CMR measures of myocardial tissue characterization will be analyzed, after controlling for biologically relevant covariates.
Measured: The initial 2.5 years of the study.
The changes in CMR tissue characterization over time in family members scanned for Outcome 1 who had normal left ventricular size and function
The measures of myocardial tissue characterization in first-degree relatives will be evaluated in a follow up CMR exam, on average, at 2.5 years following a first DCM exam, to assess changes in myocardial structure and function, again analyzed in association with the burden of likely pathogenic or pathogenic variants in DCM genes.
Measured: A subsequent 2.5 year time period
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Nov 2020
- Study start1 Apr 2021
- Primary completionDec 2026 (estimated)
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Dilated CardiomyopathyStudies of the same condition, open and under way.
- More trials run by Ohio State 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
- Family based
- Time perspective
- Other
- Enrolment
- 650 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Ohio State University
- Sponsor type
- University, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI)
- Responsible party
- Principal investigator, Ray Hershberger, Ohio State University
- Investigators
- Ray Hershberger, MD, Principal investigator, Ohio State UniversityKarolina Zareba, MD, Principal investigator, Ohio State UniversityDaniel Kinnamon, PhD, Principal investigator, Ohio State University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04638621
- Sponsor's protocol ID
- 831408
- Other IDs
- R01HL148581-01A1
- Status last verified
- Apr 2026
- First submitted
- 9 Nov 2020
- Last updated
- 21 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 21 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Precision Medicine for Dilated Cardiomyopathy-Cardiac Magnetic Resonance to Identify Early Family Phenotypes
- ClinicalTrials.gov ID
- NCT04638621
- Acronym / sponsor ID
- 831408
- Conditions
- Dilated Cardiomyopathy
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 650 participants (estimated)
- Lead sponsor
- Ohio State UniversityUniversity, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI)
- Study start
- 1 Apr 2021 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Dec 2026 (estimated)
- First posted
- 20 Nov 2020 (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.
The Dilated Cardiomyopathy-Cardiac Magnetic Resonance (DCM-CMR) Study is an ancillary study from the parent study, DCM Precision Medicine Study. The rationale for the DCM-CMR study is to leverage cardiac magnetic resonance (CMR) imaging to detect earliest findings of DCM in the at-risk family members enrolled into the parent study.
Detailed description
Dilated cardiomyopathy of unknown cause (DCM) is a major public health problem affecting more than a million people in the U.S. Most DCM is now known to have an underlying genetic basis. First-degree relatives (FDRs) of an individual with DCM are considered to be genetically at risk, particularly if they carry variants classified as pathogenic (P), likely pathogenic (LP) or uncertain significance (VUS) in DCM genes. Practice guidelines recommend that these FDRs undergo serial imaging because prompt intervention may avert advanced disease. While tissue damage is already well underway when DCM is manifest, myocardial tissue changes, termed "pre-DCM" herein, are known to precede adverse changes in myocardial structure and function. The investigators central hypothesis states that cardiac magnetic resonance (CMR) imaging may detect pre-DCM in individuals with increased genetic risk by identifying myocardial tissue changes prior to myocardial structural and functional changes. CMR measures of myocardial tissue characteristics, including late gadolinium enhancement and myocardial T1 mapping, have been histopathologically validated and have established diagnostic and prognostic value in DCM. Thus, the investigators specific hypotheses state that adverse CMR-based myocardial tissue characteristics will be associated with (1) A higher burden (number) of relevant variants (P, LP, VUS) in established DCM genes; and (2) Subsequent adverse changes in measures of cardiac structure and function. The investigators propose to leverage the DCM Precision Medicine Study, a multisite DCM Consortium study now with 1230 DCM patients (probands), balanced for race and sex, and their FDRs, most with no history of DCM. FDRs are cascade tested for relevant variants (P, LP, VUS) in DCM genes identified in probands. The investigators aim to (1) Estimate the associations between CMR-based myocardial tissue characteristics and the number (burden) of the proband's variants in DCM genes in at-risk FDRs. In 650 FDRs of probands with LP/P variants and/or VUSs, CMR scans will be completed at 9 participating DCM Consortium sites. The association between CMR-based myocardial tissue characteristics and the number of the proband's variants of each class (LP/P, VUS) carried by an at-risk FDR in a particular age group will be evaluated, adjusting for biologically relevant covariates. The investigators will also (2) Estimate the association between CMR-based myocardial tissue characteristics and subsequent changes in measures of cardiac structure and function in FDRs with normal baseline left-ventricular size and function. FDRs examined in Aim 1 will receive a second CMR exam 2.5 years after their baseline exam. The investigators will estimate the covariate-adjusted associations between baseline myocardial tissue characteristics and subsequent changes in CMR-derived measures of cardiac structure and function in groups defined by the most deleterious of the proband's variants carried (none, VUS, or LP/P). This study will validate a CMR-derived "pre-DCM" phenotype for FDRs who carry P or LP variants (established risk), and also provide preliminary evidence that some VUSs are biologically relevant.
Study design
- Observational model
- Family based
- Time perspective
- Other
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- 650 FDRs of probands from the parent study (DCM Precision Medicine Study) with no contraindication to CMR with contrast.
Key inclusion criteria (11 listed)
- The FDR's proband was enrolled in the DCM Precision Medicine Study at 1 of 9 participating sites, or exceptions granted by study PI.
- The FDR's proband has had one or more variants identified, including P, LP and VUS.
- The FDR is able report to one of the participating sites for study enrollment.
- The FDR has no current contraindication for CMR (glomerular filtration rate (GFR) <30 mL/min/1.73 m2, non-compatible device implant, or allergy to gadolinium contrast).
- The FDR has had no prior heart transplant.
Key exclusion criteria (8 listed)
- Coronary artery disease (CAD) causing ischemic cardiomyopathy (> 50% narrowing, any major epicardial coronary artery).
- Primary valvular disease.
- Adriamycin or other cardiotoxic drug exposure.
- Other forms of cardiomyopathy: Hypertrophic, Restrictive, or Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy.
- Congenital heart 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
The association between CMR-derived tissue characteristics and the number (burden) of the proband's variants in DCM genes in at-risk first-degree relatives
Time frame: The initial 2.5 years of the study.
The burden of likely pathogenic or pathogenic variants in DCM genes in first-degree relatives and the association with worse values of CMR measures of myocardial tissue characterization will be analyzed, after controlling for biologically relevant covariates.
The changes in CMR tissue characterization over time in family members scanned for Outcome 1 who had normal left ventricular size and function
Time frame: A subsequent 2.5 year time period
The measures of myocardial tissue characterization in first-degree relatives will be evaluated in a follow up CMR exam, on average, at 2.5 years following a first DCM exam, to assess changes in myocardial structure and function, again analyzed in association with the burden of likely pathogenic or pathogenic variants in DCM genes.
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 21 Apr 2026.
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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. This study is not recruiting at the moment.
Ray Hershberger, MD principal investigator
Ohio State University
Karolina Zareba, MD principal investigator
Ohio State University
Daniel Kinnamon, PhD principal investigator
Ohio State University
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 Dilated Cardiomyopathy, run by Ohio State University at 1 site in United States.
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 11 inclusion and 8 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: under way, not looking for participants, as of the sponsor's last update on 21 Apr 2026. 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 United States. 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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The association between CMR-derived tissue characteristics and the number (burden) of the proband's variants in DCM genes in at-risk first-degree relatives (time frame: The initial 2.5 years of the study.). The study lists 2 primary outcomes in all. 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 21 Apr 2026.