Research Identifies New Therapeutic Candidates for SCN8A Epilepsy
Pairnomix, LLC today announced that results from a comprehensive drug repurposing screen performed for a patient with SCN8A epilepsy were published as an original research article online and in an upcoming print issue of Epilepsia, the official journal of the International League Against Epilepsy (ILAE) and a leading, authoritative source for current research results on all aspects of epilepsy.
The study, A Comprehensive Approach to Identifying Repurposed Drugs to Treat SCN8A Epilepsy, details rigorous efforts to identify repurposed drug options for a patient with epileptic encephalopathy caused by the SCN8A R1872Q genetic mutation. Whereas most drug repurposing studies focus on one or a few select compounds, this research highlights a broader approach using high-throughput technologies to screen hundreds of on-market drugs in a single experiment. In this study, 90 drugs were identified to have a significant effect in cellular studies; the majority of these drugs have never been implicated as having effects on ion channels or epilepsy and therefore represent potentially novel mechanistic activity.
Gregory Stewart, PhD, Chief Scientific Officer at Pairnomix, remarked, “We are very pleased to share these results and the research approach we have undertaken to identify new drug options for physicians to consider in their medical management of patients with the SCN8A R1872Q variant. Our work demonstrates the utility of comprehensive, high-throughput drug screens to identify new drug options for patients that are available for immediate clinical use.”
“Over the past few years, physicians have increased the rate at which we order genetic sequencing tests for our patients,” added Dr. Orrin Devinsky, Director, NYU Comprehensive Epilepsy Center. “Although these tests can often define the exact mutation that causes a patient’s rare disease, the diagnostic findings only occasionally translate into improved therapies. The study’s findings demonstrate that a comprehensive high-throughput drug screening approach can identify approved medications that act specifically against the effects of a particular mutation.”
About the Study
In this study, an in vitro cell model was generated to replicate the patient’s specific mutation. Experiments confirmed that the mutation confers a gain-of-function effect in cells. A high-throughput screen was then performed using generic, on-market drugs to identify those that could inhibit the excess sodium influx conferred by the mutation. Of the 1,320 drugs screened, 90 drugs were identified as having potential therapeutic benefit, many of which have never before been implicated in an interaction with ion channels. Initial findings were presented in abstract form at the 2016 Annual Meeting of the American Epilepsy Society.
For more information on the study click here.
What is SCN8A?
SCN8A is a gene encoding the alpha-8 subunit of the Nav1.6 sodium channel. For more information, please reach out to The Cute Syndrome Foundation.
Pairnomix, a personalized genetic evaluations company, is committed to helping people living with rare diseases understand the genetic cause of their condition and explore potential treatment options that are available today. Pairnomix’ initial focus is on epilepsy and other disorders of the Central Nervous System. To learn more, please visit www.pairnomix.com.
PLYMOUTH, Minn., March 26, 2018 /PRNewswire/