The DCM Research Project
An Overview of the DCM Consortium and how our current studies fit together.
The DCM Research Project encompasses all of the DCM research activities, studies, information, and related resources. All study participants who are not part of the DCM Precision Medicine study, including those enrolled prior to 2015, are part of the DCM Discovery study.
The DCM Consortium
DCM CONSORTIUM OVERVIEW
The DCM Consortium is a multisite investigator group to conduct research studies focused on the genetics and genomics of DCM, including discovery, mechanisms of disease, genetic epidemiology, clinical genetics, and precision medicine and its related questions of behavioral and implementation science.
The DCM Consortium is based at The Ohio State University. Ray Hershberger, MD has organized the DCM Consortium and is the overall Principal Investigator. Site Principal Investigators (PIs) are cardiologists with special expertise in DCM, heart failure and in most cases advanced therapies including ventricular assist devices and cardiac transplantation.
Please contact us at 1-877-800-3430 if you have questions or are interested in enrolling in a study, and we will help you with the enrollment steps or refer you to one of these sites.
Expansion of the Consortium. Cardiovascular practitioners with access to DCM patients who have interest in joining the DCM Consortium for current or future studies are encouraged to contact Dr Hershberger.
Precision Medicine Study
A DCM Consortium Study funded by the National Institutes of Health in 2015.
The Precision Medicine Study is a research study to test the general hypothesis that most of dilated cardiomyopathy (DCM) of unknown cause, otherwise meeting a formal diagnosis for idiopathic dilated cardiomyopathy (IDC), has an underlying genetic basis regardless of its assignment as familial or non-familial DCM. For those not familiar with the DCM or IDC terms, please see our Frequently Asked Questions.
Dilated cardiomyopathy of unknown cause (DCM), known clinically as idiopathic dilated cardiomypathy, is the most common cardiomyopathy and is the leading cause of heart transplantation. By our estimates DCM affects approximately one million individuals, and so has a major impact on US public health. DCM is commonly asymptomatic until very late in its course when it causes heart failure, disability, and death. Because of its clinical course, any means to identify patients at risk for DCM or to detect DCM in its asymptomatic phase could provide enormous opportunity for intervention to extend lives and prevent late-stage disease. Within this paradigm precision medicine for DCM could greatly impact health care outcomes and costs. Recent advances in DCM genetics have introduced these possibilities, but unresolved questions of familial recurrence risk, genetic etiology, racial differences, and family-based screening must be addressed to move ahead. Our central hypothesis, based on our published studies, states that DCM has substantial genetic basis. For this study we hypothesize that: (a) 35% of probands of both European and African ancestry (EA/AA) will be classified as familial in a cohort recruited in a multicenter US consortium and given explicit recommendations and assistance to achieve the clinical screening of relatives; (b) approximately 40% of DCM probands, whether categorized as familial or non-familial, or as EA or AA, will have pathogenic or likely pathogenic variants in genes previously implicated in DCM; and (c) a tailored intervention to help DCM probands communicate DCM risk to their family members will improve the uptake and impact of necessary clinical and genetic testing. To test these hypotheses, we propose to: (1) estimate and compare the frequencies of EA and AA DCM probands classified as having familial DCM; (2) estimate and compare the proportions of probands with an identifiable genetic cause of DCM in groups defined by proband classification (familial/non-familial) and ancestry (EA/AA); and (3) evaluate the impact of a randomized intervention to aid and direct family communication on participation of at-risk family members in clinical screening and appropriate follow-up surveillance for DCM. These aims will be accomplished by recruiting a cohort of 1300 DCM probands (600 EA, AA, 100 of Hispanic ethnicity), performing cardiovascular clinical screening of 2600 family members, performing genetic testing of probands and affected family members by exome sequencing, returning genetic results, and randomizing probands to an intervention to improve family communication regarding DCM risk. Proving these hypotheses would be transformative for the field: rather than viewing DCM as only a clinical diagnosis, we would understand DCM as a genetic disease that should be managed using genetic diagnostic and family-based preventive strategies. Our study results would make precision medicine for DCM a reality.
For this study we received a grant of $10.7 million from National Heart Lung and Blood Institute (NHLBI). The NHLBI is an Institute dedicated to understanding and preventing heart disease and stroke. Additional information regarding the invaluable work of the NHLBI is available.
We also received $1.7 million in supplemental funding from the National Human Genome Research Institute (NHGRI) to recruit additional patients of Hispanic ethnicity and their families. Please see the section above NHGRI Hispanic Supplement for additional details.
The DCM Discovery Study
The aspirational goal of the DCM Discovery Study is to enroll thousands more DCM families, as the clinical and genetic information from a much larger number of DCM families is needed to decipher the complexity of DCM genetics.
Investigators and sites who are not yet members of the DCM Consortium are invited to consider this opportunity. Be in touch with Dr. Hershberger if of interest.
Please see The DCM Research Project for a brief explanation of all DCM research activities, studies, information, and related resources. Our History provides detail of the development of the DCM Research Project and What We’ve Accomplished explains the evolution of our current research studies, including this DCM Discovery Study.
Interested individuals and families with DCM please see Options for Participation. Health care professionals interested in referring patients and families to us please see Referring Patients for Research Purposes.