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NCT Number: NCT02432092

Pediatric Cardiomyopathy Mutation Analysis

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.

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Key information

Conditions

Cardiomyopathies Aortic Stenosis, Subvalvular Aortic Valve Disease Aortic Valve Stenosis Arrhythmogenic Right Ventricular Cardiomyopathy Arrhythmogenic Right Ventricular Dysplasia Cardiomegaly Cardiomyopathy, Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Restrictive Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dilated Cardiomyopathy Genetic Diseases, Inborn Heart Defects, Congenital Heart Diseases Heart Failure Heart Valve Diseases Hypertrophic Cardiomyopathy Hypertrophy Laminopathies Left Ventricular Non-compaction Cardiomyopathy Pathological Conditions, Anatomical Pathological Conditions, Signs and Symptoms Restrictive Cardiomyopathy

Sex eligibility

All sexes

Study type

Observational

Primary location

IU School of Medicine

Indianapolis, Indiana, 46202, United States

Location status: Recruiting

Location contact

Stephanie Ware, MD, PhD

CONTACT

[email protected]

317-278-2807

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Subjects with cardiomyopathy
  • Family members of subjects with cardiomyopathy

Exclusion criteria

  • Subjects without cardiomyopathy
  • Family members of subjects without cardiomyopathy

Treatment and study plan

Primary outcomes

  1. Elucidate the molecular genetics of cardiomyopathy

    Time frame: 7 years

Study contacts

Contact information is provided by the study sponsor or research team.

Sarah Murphy, MPH

CONTACT

[email protected]

(317) 278-3026

Stephanie Ware, MD, PhD

CONTACT

[email protected]

(317) 278-2807

Sponsors and collaborators

Lead sponsor

Indiana University

Other

Collaborators

  • American Heart Association

Registry information

Important dates

Study start
2014
Primary completion
2030
Study completion
2030
First posted
May 1, 2015
Registry last updated
Jun 22, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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