Pediatric Cardiomyopathy Mutation Analysis

Cardiomyopathies Clinical Trial

Official title: Pediatric Cardiomyopathy Mutation Analysis

Status Recruiting

Clinical Trial 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.

Clinical Trial 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. ;

Related Conditions & MeSH terms

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

• NCT number: NCT02432092
• Study type: Observational
• Source: Indiana University
• Contact: Lindsey Helvaty, BS, BA
• Phone: (317) 278-3020
• Email: lhelvaty@iu.edu
• Status: Recruiting
• Start date: April 2014
• Completion date: December 31, 2030