NCT01873963

Brief Summary

Cardiomyopathy in children is a serious disease which can result in death, disability, heart transplantation or serious heart rhythm disorders. Doctors know little about the causes of cardiomyopathy but would like to learn more. In fact, up to 50-75% of cases in children have no known cause. For this reason, the purpose of this study is to identify genes that cause cardiomyopathy or that influence how people with cardiomyopathy do over time. These findings could improve disease prevention, surveillance, early management, and prognosis.

Trial Health

90
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
544

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Apr 2013

Longer than P75 for all trials

Geographic Reach
2 countries

12 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

April 1, 2013

Completed
2 months until next milestone

First Submitted

Initial submission to the registry

June 6, 2013

Completed
4 days until next milestone

First Posted

Study publicly available on registry

June 10, 2013

Completed
3.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 1, 2017

Completed
1.2 years until next milestone

Study Completion

Last participant's last visit for all outcomes

March 31, 2018

Completed
Last Updated

May 1, 2018

Status Verified

April 1, 2018

Enrollment Period

3.8 years

First QC Date

June 6, 2013

Last Update Submit

April 30, 2018

Conditions

Dilated CardiomyopathyHypertrophic CardiomyopathyRestrictive Cardiomyopathy

Outcome Measures

Primary Outcomes (1)

  • Time to death

    2 years

Secondary Outcomes (4)

  • Time to transplant

    2 years

  • Time to normalized left ventricular size or function in dilated cardiomyopathy

    2 years

  • Septal:Posterior wall thickness ratio in hypertrophic cardiomyopathy

    2 years

  • Left ventricular outflow tract in hypertrophic cardiomyopathy

    2 years

Study Arms (1)

Pediatric cardiomyopathy

Diagnosis of primary or idiopathic dilated, hypertrophic or restrictive cardiomyopathy. Diagnosis must have been made before the age of 18 and must be confirmed by established echocardiographic criteria or cardiac MRI (cMRI) at the time of diagnosis.

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Pediatric cases of dilated, hypertrophic or restrictive cardiomyopathy and select relatives will be enrolled at 11 pediatric cardiology centers in the US and Canada.

You may qualify if:

  • Patient is alive. (except samples from deceased relatives who have consented for testing).Patients who are status-post heart transplant are eligible if pre-transplant longitudinal data are available.
  • Under age 18 years at the time of diagnosis of either primary or idiopathic dilated, hypertropic, or restrictive cardiomyopathy.
  • A diagnosis of cardiomyopathy which, at the time of diagnosis, was confirmed by echocardiographic criteria or cardiac MRI

You may not qualify if:

  • A patient is not eligible for enrollment if one or more of the following conditions are met at the time of presentation with cardiomyopathy:
  • Arrhythmogenic right ventricular dysplasia
  • Neuromuscular disease (defined by specific conditions)
  • 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
  • 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
  • Malignancy
  • Systemic Hypertension
  • Pulmonary parenchymal or vascular disease (e.g., cystic fibrosis, cor pulmonale, or pulmonary hypertension)
  • +3 more criteria

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (12)

Children's Hospital Colorado

Aurora, Colorado, 80045, United States

Location

University of Miami, Jackson Memorial Hospital

Miami, Florida, 33136, United States

Location

Ann and Robert H. Lurie Children's Hospital of Chicago

Chicago, Illinois, 60611, United States

Location

Children's Hospital Boston

Boston, Massachusetts, 02115, United States

Location

Washington University School of Medicine

St Louis, Missouri, 63110, United States

Location

Children's Hospital of New York, Columbia Presbyterian Medical Center

New York, New York, 10032, United States

Location

Children's Hospital at Montefiore

The Bronx, New York, 10467, United States

Location

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

Location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Monroe Carell Jr. Children's Hospital at Vanderbilt

Nashville, Tennessee, 37232, United States

Location

Primary Children's Medical Center

Salt Lake City, Utah, 84113, United States

Location

Stollery Children's Hospital

Edmonton, Alberta, T6G 2B7, Canada

Location

Related Publications (1)

  • Ware SM, Wilkinson JD, Tariq M, Schubert JA, Sridhar A, Colan SD, Shi L, Canter CE, Hsu DT, Webber SA, Dodd DA, Everitt MD, Kantor PF, Addonizio LJ, Jefferies JL, Rossano JW, Pahl E, Rusconi P, Chung WK, Lee T, Towbin JA, Lal AK, Bhatnagar S, Aronow B, Dexheimer PJ, Martin LJ, Miller EM, Sleeper LA, Razoky H, Czachor J, Lipshultz SE; Pediatric Cardiomyopathy Registry Study Group. Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study. J Am Heart Assoc. 2021 May 4;10(9):e017731. doi: 10.1161/JAHA.120.017731. Epub 2021 Apr 28.

    PMID: 33906374DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Bio specimen blood samples were collected for patients enrolled in the PCM Genes study.

MeSH Terms

Conditions

Cardiomyopathy, DilatedCardiomyopathy, HypertrophicCardiomyopathy, Restrictive

Condition Hierarchy (Ancestors)

CardiomegalyHeart DiseasesCardiovascular DiseasesCardiomyopathiesLaminopathiesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesAortic Stenosis, SubvalvularAortic Valve StenosisAortic Valve DiseaseHeart Valve Diseases

Study Officials

  • Steven E Lipshultz, MD

    Wayne State University

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Schotanus Family Endowed Chair of Pediatrics, Professor and Chair, Carman and Ann Adams Department of Pediatrics, Wayne State University School of Medicine; President, University Pediatricians and Pediatrician-in-Chief, Children's Hospital of Michigan

Study Record Dates

First Submitted

June 6, 2013

First Posted

June 10, 2013

Study Start

April 1, 2013

Primary Completion

February 1, 2017

Study Completion

March 31, 2018

Last Updated

May 1, 2018

Record last verified: 2018-04

Locations

US(11)CA(1)