Pediatric Cardiomyopathy Mutation Analysis

• Sponsor: Indiana University (Other)
• Overall Status: Recruiting
• CT.gov ID: NCT02432092
• Collaborator: American Heart Association (Other)
• Enrollment: 300
• Location: 1
• Duration (Months): 168
• Patients Per Site Per Month: 1.8

Study Details

Study Description

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	Intervention/Treatment	Phase
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.

Study Design

• Study Type: Observational
• Anticipated Enrollment: 300 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: Pediatric Cardiomyopathy Mutation Analysis
• Study Start Date: Apr 1, 2014
• Anticipated Primary Completion Date: Apr 1, 2025
• Anticipated Study Completion Date: Apr 1, 2028

Arms and Interventions

Arm	Intervention/Treatment
Affected participants with cardiomyopathy
Family Members of affected Family members of participants with cardiomyopathy (can be affected or unaffected)

Outcome Measures

Primary Outcome Measures

1. Elucidate the molecular genetics of cardiomyopathy [7 years]

Eligibility Criteria

Criteria

• Ages Eligible for Study: N/A and Older
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

Inclusion Criteria:

• Subjects with cardiomyopathy

• Family members of subjects with cardiomyopathy

Exclusion Criteria:

• Subjects without cardiomyopathy

• Family members of subjects without cardiomyopathy

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	IU School of Medicine	Indianapolis	Indiana	United States	46202

Sponsors and Collaborators

• Indiana University
• American Heart Association

Investigators

• Principal Investigator: Stephanie Ware, MD, PhD, IU School of Medicine

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Stephanie Ware, Professor of Pediatrics and Medical and Molecular Genetics, Indiana University
• ClinicalTrials.gov Identifier: NCT02432092
• Other Study ID Numbers: 1403919054
• First Posted: May 1, 2015
• Last Update Posted: Feb 2, 2022
• Last Verified: Feb 1, 2022

• Keywords provided by Stephanie Ware, Professor of Pediatrics and Medical and Molecular Genetics, Indiana University: Cardiomegaly; Cardiovascular Diseases; Heart Diseases; Systolic dysfunction; Diastolic dysfunction; Ventricular hypertrophy; Heart failure
• Additional relevant MeSH terms: Cardiomyopathies; Cardiomyopathy, Hypertrophic; Cardiomyopathy, Dilated; Arrhythmogenic Right Ventricular Dysplasia; Cardiomyopathy, Restrictive

Study Results

No Results Posted as of Feb 2, 2022