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Pediatric Cardiomyopathy Mutation Analysis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02432092
Recruitment Status : Recruiting
First Posted : May 1, 2015
Last Update Posted : February 28, 2019
American Heart Association
Information provided by (Responsible Party):
Stephanie Ware, Indiana University

Brief Summary:
The goal of this protocol is to obtain information from individuals with cardiomyopathy and from their families in order to elucidate the molecular genetics of this disorder. This will provide the basis for future genetic counseling as well as contribute to elucidating the biology of normal and abnormal cardiac function.

Condition or disease
Cardiomyopathies Dilated Cardiomyopathy Hypertrophic Cardiomyopathy Restrictive Cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy Left Ventricular Non-compaction Cardiomyopathy

Detailed Description:
Cardiomyopathy is a genetically heterogeneous heart muscle disorder that results in ventricular dysfunction. While significant progress has been made in identifying the genetic basis of cardiomyopathy in adults, molecular diagnosis in children has proven more challenging and current algorithms do not incorporate mutation analysis in the clinical protocol. However, recent studies indicate that cardiomyopathy outcomes in children are origin specific, highlighting the importance of precise diagnosis. The goal of this study is to identify the genetic causes of pediatric cardiomyopathy. Rapid, comprehensive and cost-effective detection of genetic causes of cardiomyopathy will aid management and development of novel treatment strategies.

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Study Type : Observational
Estimated Enrollment : 300 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Pediatric Cardiomyopathy Mutation Analysis
Study Start Date : April 2014
Estimated Primary Completion Date : April 2019
Estimated Study Completion Date : April 2021

participants with cardiomyopathy
Family Members of affected
Family members of participants with cardiomyopathy (can be affected or unaffected)

Primary Outcome Measures :
  1. Elucidate the molecular genetics of cardiomyopathy [ Time Frame: 7 years ]

Biospecimen Retention:   Samples With DNA
Whole Blood, Saliva, Tissue

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Families affected by cardiomyopathy

Inclusion Criteria:

  • Subjects with cardiomyopathy
  • Family members of subjects with cardiomyopathy

Exclusion Criteria:

  • Subjects without cardiomyopathy
  • Family members of subjects without cardiomyopathy

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02432092

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Contact: Lindsey Elmore, BS, BA (317) 278-3020
Contact: Stephanie Ware, MD, PhD (317) 278-2807

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United States, Indiana
IU School of Medicine Recruiting
Indianapolis, Indiana, United States, 46202
Contact: Stephanie Ware, MD, PhD    317-278-2807   
Sponsors and Collaborators
Indiana University
American Heart Association
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Principal Investigator: Stephanie Ware, MD, PhD IU School of Medicine

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Responsible Party: Stephanie Ware, Professor of Pediatrics and Medical and Molecular Genetics, Indiana University Identifier: NCT02432092     History of Changes
Other Study ID Numbers: 1403919054
First Posted: May 1, 2015    Key Record Dates
Last Update Posted: February 28, 2019
Last Verified: February 2019
Keywords provided by Stephanie Ware, Indiana University:
Cardiovascular Diseases
Heart Diseases
Systolic dysfunction
Diastolic dysfunction
Ventricular hypertrophy
Heart failure
Additional relevant MeSH terms:
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Cardiomyopathy, Hypertrophic
Cardiomyopathy, Dilated
Cardiomyopathy, Restrictive
Arrhythmogenic Right Ventricular Dysplasia
Heart Diseases
Cardiovascular Diseases
Aortic Stenosis, Subvalvular
Aortic Valve Stenosis
Heart Valve Diseases
Heart Defects, Congenital
Cardiovascular Abnormalities
Congenital Abnormalities