Leading-edge biomarker research aids in infantile spasms management

The CHOC Children’s Neuroscience Institute has partnered with the Pediatric Epilepsy Research Consortium (PERC) to advance treatment for infantile spasms.

PERC is a national consortium inclusive of more than 54 epilepsy programs, with 25 centers collaborating on infantile spasms research.

“PERC’s inception 10 years ago was born out of the American Epilepsy Society and a select team of specialists interested in building a wider network and infrastructure for large-scale clinical trials. Many diseases, like infantile spasms, are rare, and collaboration within PERC offers a wider patient pool for researching such uncommon conditions,” says Dr. Daniel Shrey, pediatric epileptologist at CHOC.

Dr. Daniel Shrey, Pediatric Epileptologist at CHOC Children's
Dr. Daniel Shrey, pediatric epileptologist at CHOC Children’s

Dr. Shrey was recently selected to lead PERC’s infantile spasms sub-group. In his new role, he is coordinating efforts between over a dozen pediatric epilepsy centers to catalyze multi-centered research on infantile spasms, a devastating type of epilepsy that typically begins in the first year of life.

Much of the current research on infantile spasms focuses on the visual analysis of a patient’s EEG, whereas Dr. Shrey’s research uses a computational approach. His research uses various mathematical tools to analyze neural data and identify new biomarkers of disease. Most of this work is done in collaboration with Dr. Beth Lopour, assistant professor of biomedical engineering, who leads the Laboratory of Computation and Translational Neuroscience at the University of California, Irvine.

“A novel biomarker we are studying is functional connectivity — measuring how activity in one part of the brain impacts another. We use characteristics of the brain network to predict how patients are likely to respond to treatment, compared to visual measures alone,” Dr. Lopour says.

She and her students develop computer code and perform data analysis for their research.

“This approach removes human interpretation and natural biases to instead focus on the data to make clinical decisions,” Dr. Shrey says.

Biomarkers also advance research by beginning to tell researchers how a disease responds to treatment and evolves over time. Discovering and validating a biomarker opens the possibility for a future clinical trial for patients with rare diseases.

The PERC infantile spasms group combines specialists in biomarker research, genetics, RNA genetics and brain inflammation, among others. In the future, the epilepsy field will look to quantitative approaches to guide clinical decision-making, ultimately improving the lives of children with epilepsy.

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