Pediatric Cardiomyopathy Mutation Analysis
| Status: | Recruiting |
|---|---|
| Conditions: | High Cholesterol, Cardiology, Cardiology, Orthopedic |
| Therapuetic Areas: | Cardiology / Vascular Diseases, Orthopedics / Podiatry |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 3/2/2019 |
| Start Date: | April 2014 |
| End Date: | April 2021 |
| Contact: | Lindsey Elmore, BS, BA |
| Email: | lhelvaty@iupui.edu |
| Phone: | (317) 278-3020 |
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.
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.
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.
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.
Inclusion Criteria:
- Subjects with cardiomyopathy
- Family members of subjects with cardiomyopathy
Exclusion Criteria:
- Subjects without cardiomyopathy
- Family members of subjects without cardiomyopathy
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