Hypertrophic Cardiomyopathy Clinical Trial
Official title:
Genotype-Phenotype Associations in Pediatric Cardiomyopathy
Cardiomyopathy in children is a serious disease which can result in death, disability, heart transplantation or serious heart rhythm disorders. Doctors know little about the causes of cardiomyopathy but would like to learn more. In fact, up to 50-75% of cases in children have no known cause. For this reason, the purpose of this study is to identify genes that cause cardiomyopathy or that influence how people with cardiomyopathy do over time. These findings could improve disease prevention, surveillance, early management, and prognosis.
Pediatric cardiomyopathy is a heterogeneous genetic disease with high morbidity and mortality
in which children often present with fulminant disease leading to death or transplant. The
long-term goal of this project is to identify the genetic basis of cardiomyopathy and to
correlate these findings with clinical phenotypes for risk stratification. These findings
could improve disease prevention, surveillance, early management, and prognosis.
The specific aims of this study are:
1. To identify the disease-causing and disease-associated genetic variants underlying
pediatric cardiomyopathy in a carefully phenotyped cohort.
2. To identify genotype-phenotype correlations that allow for risk stratification and
improve management and therapy.
Exome sequencing will be used as part of a tiered genetic analysis in a large cohort of up to
700 pediatric cardiomyopathy subjects with systolic (dilated cardiomyopathy) or diastolic
(hypertrophic or restrictive cardiomyopathy) dysfunction. The biological parent(s) of
enrolled participants will also be approached about participating and providing a blood
sample for genetic testing. In addition to the parent(s), the participants siblings and other
relatives may also be approached regarding enrollment, based on the pedigree and family
history.
This study will significantly increase our understanding of pediatric cardiomyopathy by
defining the prevalence of mutations in genes known to cause cardiomyopathy as well as
identifying novel disease-causing genes in the pediatric population. Genetic association
tests will identify variants that modify disease. Novel bioinformatics and systems biology
applications for interpretation of exome level genetic information will contribute
fundamental knowledge and technical innovation to the translation of genomic data to clinical
utility. These aims will provide critical genetic architecture data, identify variants with
large effects, and enable genotype-phenotype correlations necessary for advancing management
and therapy.
The Study will have two components: 1) clinical data collection by chart review and family
interview, and 2) biospecimen collection and genetic testing.
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