Pediatric Cardiomyopathy Mutation Analysis

NCT ID: NCT02432092

Last Updated: 2025-06-26

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 300 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2014-04-30
• Study Completion Date: 2030-12-31

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.

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.

Conditions

Cardiomyopathies; Dilated Cardiomyopathy; Hypertrophic Cardiomyopathy; Restrictive Cardiomyopathy; Arrhythmogenic Right Ventricular Cardiomyopathy; Left Ventricular Non-compaction Cardiomyopathy

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Affected

participants with cardiomyopathy

No interventions assigned to this group

Family Members of affected

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

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• Subjects with cardiomyopathy
• Family members of subjects with cardiomyopathy

Exclusion Criteria

• Subjects without cardiomyopathy
• Family members of subjects without cardiomyopathy

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

American Heart Association

OTHER

Sponsor Role: collaborator

Indiana University

OTHER

Sponsor Role: lead

Responsible Party

Stephanie Ware

Professor of Pediatrics and Medical and Molecular Genetics

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Stephanie Ware, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

IU School of Medicine

Locations

IU School of Medicine

Indianapolis, Indiana, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Lindsey Helvaty, BS, BA

Role: CONTACT

lhelvaty@iu.edu

(317) 278-3020

Stephanie Ware, MD, PhD

Role: CONTACT

stware@iu.edu

(317) 278-2807

Facility Contacts

Stephanie Ware, MD, PhD

Role: primary

stware@iu.edu

317-278-2807

Other Identifiers

1403919054

Identifier Type: -

Identifier Source: org_study_id