Pediatric Cardiomyopathy Mutation Analysis | NCT02432092

Studies
Pediatric Cardiomyopathy Mutation Analysis

NCT02432092

Sponsor

Indiana University

Status

Recruiting

Last Update Posted

Jun 22, 2026Actual

Enrollment

300Estimated

Phase

Not provided

Conditions

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

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Jun 2026

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Apr 2014

Primary Completion Date

Dec 31, 2030Estimated

Completion Date

Dec 31, 2030Estimated

First Submitted Date

Apr 28, 2015

First Submission Date that Met QC Criteria

Apr 28, 2015

First Posted Date

May 1, 2015Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jun 17, 2026

Last Update Posted Date

Jun 22, 2026Actual

Name	Class
American Heart Association	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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 Module

Conditions

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

Keywords

Cardiomegaly
Cardiovascular Diseases
Heart Diseases
Systolic dysfunction
Diastolic dysfunction
Ventricular hypertrophy
Heart failure

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

300Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Affected		participants with cardiomyopathy
Family Members of affected		Family members of participants with cardiomyopathy (can be affected or unaffected)

Interventions

Not provided

Measure	Description	Time Frame
Elucidate the molecular genetics of cardiomyopathy		7 years

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Subjects with cardiomyopathy
Family members of subjects with cardiomyopathy

Exclusion Criteria:

Subjects without cardiomyopathy
Family members of subjects without cardiomyopathy

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Families affected by cardiomyopathy

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Sarah Murphy, MPH	Contact	(317) 278-3026		bankssk@iu.edu
Stephanie Ware, MD, PhD	Contact	(317) 278-2807		stware@iu.edu

Overall Officials

Name	Affiliation	Role
Stephanie Ware, MD, PhD	IU School of Medicine	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
IU School of Medicine	Recruiting	Indianapolis	Indiana	46202	United States

Condition Browse Module

MeSH Terms

ID	Term
D009202	Cardiomyopathies
D002311	Cardiomyopathy, Dilated
D002312	Cardiomyopathy, Hypertrophic
D002313	Cardiomyopathy, Restrictive
D019571	Arrhythmogenic Right Ventricular Dysplasia
D006332	Cardiomegaly
D002318	Cardiovascular Diseases
D006331	Heart Diseases
D006333	Heart Failure

Ancestor Terms

ID	Term
D000083083	Laminopathies
D030342	Genetic Diseases, Inborn
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
D001020	Aortic Stenosis, Subvalvular

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