Cardiac Biomarkers in Pediatric Cardiomyopathy (PCM Biomarkers)

August 17, 2026 updated by: Steve Lipshultz, Wayne State University

Cardiac Biomarkers in Pediatric Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle. It is rare, but it can be serious. Cardiomyopathy in children can result in death, disability, heart transplantation or serious heart rhythm disorders. Natural substances in the blood called cardiac biomarkers can be measured in the laboratory and could be a less invasive way (compared to echocardiograms or MRIs) to detect heart dysfunction in children with cardiomyopathy. Little is known about how useful and valid cardiac biomarkers are in the diagnosis and determination of the symptoms in children with cardiomyopathy. The long-term goal of this project is to study how helpful measuring cardiac biomarkers in children with cardiomyopathy is to their doctors in managing the care of these patients as well as improving their overall health. Measures of these cardiac biomarkers could help doctors in determining how best to care for a child with cardiomyopathy, including when to consider heart transplantation as a treatment option.

Study Overview

Status

Completed

Conditions

Detailed Description

Pediatric cardiomyopathy is a heterogeneous disease with high morbidity and mortality in which children often present with fulminant disease leading to death or transplant. Highly sensitive and specific cardiac biomarkers or panels of biomarkers, representing different pathologic mechanisms or pathways, are the least invasive (a particularly important consideration in children) and most-cost-effective approach to the early detection of cardiac dysfunction. The long-term goal of this project is to identify such biomarkers in children with cardiomyopathy. These findings could represent a major advance in determining the most appropriate evidence-based clinical care for these children, including when to consider heart transplantation.

The specific aims of this study are:

To determine the ability of established and novel cardiac biomarkers to predict short- and long-term outcomes in children with newly diagnosed (incident) dilated cardiomyopathy (DCM)
To assess the clinical utility of cardiac biomarkers of collagen metabolism in determining the presence of myocardial fibrosis, as established by cardiac MRI (cMRI), and left ventricular (LV) diastolic dysfunction, as established by echocardiography in both newly diagnosed and existing cases of idiopathic and familial hypertrophic cardiomyopathy (HCM) in children.
To determine whether longitudinal changes in cardiac biomarkers are associated with worsening heart failure (HF) class in clinically stable children with dilated or hypertrophic cardiomyopathy. This study will determine the importance of serological biomarkers, in conjunction with cardiac imaging, in the early identification of heart disease before cardiac remodeling and functional impairment have become irreversible in a pediatric population.

This is a 5-year prospective study of up to 480 children with either primary dilated or hypertrophic cardiomyopathy. The study will have three components: 1) clinical data collection by chart review, 2) biospecimen collection and testing, and 3) centralized review and measurement of echocardiograms and cMRIs.

Study Type

Observational

Enrollment (Actual)

288

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

Canada
- Alberta
  - Edmonton, Alberta, Canada, T6G 2B7
    - Stollery Children's Hospital, University of Alberta
United States
- Colorado
  - Aurora, Colorado, United States, 80045
    - Children's Hospital Colorado
- Illinois
  - Chicago, Illinois, United States, 60611
    - Ann and Robert H. Lurie Children's Hospital
- Massachusetts
  - Boston, Massachusetts, United States, 02115
    - Children's Hospital Boston
- Missouri
  - St Louis, Missouri, United States, 63110
    - Washington University School of Medicine
- New York
  - New York, New York, United States, 10032
    - Children's Hospital of New York, Columbia Presbyterian Medical Center
  - The Bronx, New York, United States, 10467
    - Children's Hospital at Montefiore
- Ohio
  - Cincinnati, Ohio, United States, 45229
    - Cincinnati Children's Hospital Medical Center
- Pennsylvania
  - Philadelphia, Pennsylvania, United States, 19104
    - Children's Hospital of Philadelphia
  - Pittsburgh, Pennsylvania, United States, 15224
    - Children's Hospital of Pittsburgh of UMPC
- Tennessee
  - Memphis, Tennessee, United States, 38103
    - Le Bonheur Children's Hospital
  - Nashville, Tennessee, United States, 37232
    - Monroe Carell Jr. Children's Hospital at Vanderbilt
- Utah
  - Salt Lake City, Utah, United States, 84113
    - Primary Children's Medical Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 20 years (Child, Adult)

Accepts Healthy Volunteers

Sampling Method

Non-Probability Sample

Study Population

Pediatric cases of dilated and hypertrophic cardiomyopathy will be recruited at 11 pediatric cardiology centers in the US and Canada.

Description

Inclusion Criteria:

Patient is alive and has not received a transplant prior to enrollment in the study.
Under age 21 years at age of enrollment
For Group 1 (incident DCM), a case of DCM presenting to a study site within 2 years of the original cardiomyopathy diagnosis
Group 2 (incident/recent HCM), a new or existing diagnosis of idiopathic or familial HCM with a cMRI within 12 months of diagnosis
Group 3 (prevalent HCM or DCM), any child with a diagnosis of DCM or idiopathic, familial, or HCM due to a known disease-causing mutation who has survived transplant-free at least 12 months from the date of original cardiomyopathy diagnosis
For all 3 groups, diagnosis of cardiomyopathy must be confirmed by Echocardiographic or cMRI criteria

Exclusion Criteria:

A patient is not eligible for enrollment if one or more of the following conditions are met at the time of presentation with cardiomyopathy:

Any cardiomyopathy diagnosis other than DCM or idiopathic HCM, familial HCM or HCM due to a known disease-causing gene
Endocrine disease known to cause heart muscle disease (including infants of diabetic mothers)
History of rheumatic fever
Toxic exposures known to cause heart muscle disease (anthracyclines, mediastinal radiation, iron overload or heavy metal exposure)
HIV infection or born to an HIV positive mother
Kawasaki disease
Congenital heart defects unassociated with malformation syndromes (e.g., valvular heart disease or congenital coronary artery malformations)
Immunologic disease
Invasive cardiothoracic procedures or major surgery during the preceding month, except those specifically related to cardiomyopathy including left ventricular assist device (LVAD), extracorporeal membrane oxygenator (ECMO), and automatic implantable cardioverter defibrillator (AICD) placement
Uremia, active or chronic
Abnormal ventricular size or function that can be attributed to intense physical training or chronic anemia
Chronic arrhythmia, unless there are studies documenting inclusion criteria prior to the onset of arrhythmia (except a patient with chronic arrhythmia, subsequently ablated, whose cardiomyopathy persists after two months is not to be excluded)
Malignancy
Systemic Hypertension
Pulmonary parenchymal or vascular disease (e.g., cystic fibrosis, cor pulmonale, or pulmonary hypertension)
Ischemic coronary vascular disease
Association with drugs (e.g., growth hormone, corticosteroids, cocaine) or other diseases known to cause hypertrophy

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Number of groups / cohorts

Cohorts and Interventions

Group / Cohort
Incident DCM A case of dilated cardiomyopathy that presents to the study site for the first time.
Incident/Recent HCM A new or existing diagnosis of idiopathic or familial hypertrophic cardiomyopathy, diagnosed within the past 2 months and with a cMRI within 2 months of diagnosis.
Prevalent HCM or DCM Any child with a diagnosis of dilated cardiomyopathy or idiopathic or familial hypertrophic cardiomyopathy who has survived transplant-free at least 24 months from the date of cardiomyopathy diagnosis.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Time to Death Time Frame: 2 years	2 years

Secondary Outcome Measures

Outcome Measure	Time Frame
Time to heart transplant Time Frame: 2 years	2 years
Worsening heart failure Time Frame: 2 years	2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Wayne State University

Collaborators

Children's Hospital of Philadelphia

Washington University School of Medicine

Columbia University

University of Pittsburgh

Children's Hospital Colorado

Boston Children's Hospital

Montefiore Medical Center

Ann & Robert H Lurie Children's Hospital of Chicago

Children's Hospital Medical Center, Cincinnati

Primary Children's Hospital

Stollery Children's Hospital

Monroe Carell Jr. Children's Hospital at Vanderbilt

Le Bonheur Children's Hospital

Carelon Research

Investigators

Principal Investigator: Steven E Lipshultz, MD, Wayne State University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 1, 2013

Primary Completion (Actual)

January 1, 2017

Study Completion (Actual)

June 1, 2019

Study Registration Dates

First Submitted

June 6, 2013

First Submitted That Met QC Criteria

June 6, 2013

First Posted (Estimated)

June 10, 2013

Study Record Updates

Last Update Posted (Actual)

August 19, 2026

Last Update Submitted That Met QC Criteria

August 17, 2026

Last Verified

October 1, 2020

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

1R01HL109090-01A1 (U.S. NIH Grant/Contract)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Cardiac Biomarkers in Pediatric Cardiomyopathy (PCM Biomarkers)