While there have been some advancements in adult cardiomyopathy and congenital heart defects, there has been less medical progress on pediatric cardiomyopathy due to its rarity and variability. The Children’s Cardiomyopathy Foundation (CCF) continues to focus on increasing research studies, multi-center clinical trials, and the publication of research findings on pediatric cardiomyopathy.
To encourage targeted treatment and identify at risk family members, CCF advises parents to incorporate genetic testing into their child’s evaluation and family screening process.
Clinical research studies are important because they have the potential to improve function, prognosis, or quality of life for children living with cardiomyopathy. They are used to determine whether new biomedical or behavior interventions involving medications, devices, diagnostic products, and treatment regimens are safe and effective in humans.
The Foundation works with many researchers to assist with patient recruitment for national studies focused on pediatric cardiomyopathy. While CCF will notify registered families of studies that they may qualify for, families may also ask their pediatric cardiologist or geneticist to recommend appropriate studies.
The National Institutes of Health site, ClinicalTrials.gov, provides information on publicly and privately funded studies being conducted worldwide. Maintained by the National Library of Medicine, this resource enables the public to search for past and current clinical trials on cardiomyopathy.
The National Heart, Lung, and Blood Institute has an informative website, Children and Clinical Studies, that explains what participating in a clinical research study entails.
The number of medical publications on pediatric cardiomyopathy has increased tremendously in the past decade. Medical abstracts and publications on pediatric cardiomyopathy including specific forms of cardiomyopathy can be accessed through PubMed. PubMed is a service of the National Library of Medicine that includes more than 24 million citations for biomedical articles from MEDLINE, life science journals and online books.
The Foundation also maintains a listing of publications, abstracts, and meeting presentations on pediatric cardiomyopathy studies that CCF has funded, which can be provided upon request.
Both research laboratories and genetic testing companies offer testing on cardiomyopathy. The National Center for Biotechnology Information (NCBI) maintains a Genetic Testing Registry with a list of available genetic tests offered by laboratories in the U.S. and abroad.
Many genetic testing companies offer commercial testing panels. As the field continues to evolve, panels are updated to reflect a comprehensive testing menu of potential cardiomyopathy-causing genes. To view a list of cardiomyopathy panel tests, download the chart for Genetic Testing Companies.
Clinical testing in the United States may only be provided by laboratories that are certified by the Centers for Medicare & Medicaid Services through the Clinical Laboratory Improvement Amendments of 1988 (CLIA). The CLIA Act outlines federal regulations for U.S. facilities that test human specimens for health assessment or to diagnose, prevent, or treat disease. The purpose of the CLIA program is to ensure high-quality laboratory testing.
The CLIA program is collectively administered by the Centers for Disease Control and Prevention (CDC), Centers for Medicare & Medicaid Services (CMS), and U.S. Food & Drug Administration (FDA) with oversight on the development of technical standards, creating laboratory guidelines, offering technical assistance and educational materials, and conducting quality improvement studies. More information about CLIA can be found on the CDC website.