Pairnomix, LLC and KCNQ2 Cure Alliance today announced that findings from a new case study for a patient with KCNQ2 epilepsy were presented at the 71st Annual Meeting of the American Epilepsy Society in Washington, DC, December 1-5, 2017.
Using comprehensive drug repurposing screening, the company identified on-market compounds that mitigated the functional deficit conferred by a specific gain-of-function KCNQ2 mutation. An abstract of the poster presentation can be found online at https://www.aesnet.org.
Pairnomix offers personalized genetic evaluations that provide physicians with data on a patient’s rare genetic mutation and on potential treatment options that are available today. The company first entered into a collaboration with the KCNQ2 Cure Alliance to explore a genetic mutation in KCNQ2 epileptic encephalopathy in 2015 and recently renewed the partnership for a second case study. Findings presented at AES are from their first project.
It is estimated that 500 people worldwide have been diagnosed with KCNQ2 epileptic encephalopathy. However, many more are believed to be affected by this rare genetic mutation, but have not been diagnosed due to its relatively recent discovery and availability of genetic testing.
“Pairnomix has been a true partner in supporting our efforts to find new treatment options for KCNQ2 epilepsies,” said Jim Johnson, President, KCNQ2 Cure Alliance.
Added Matthew Fox, CEO, Pairnomix, “We appreciate working with the KCNQ2 Cure Alliance. Our partnership has resulted in Pairnomix again demonstrating the potential of drug repurposing in the treatment of rare diseases.”
About KCNQ2 Epileptic Encephalopathy
KCNQ2 epileptic encephalopathies are caused by mutations in the KCNQ2 gene (also known as the potassium voltage-gated channel, KQT-like subfamily, member 2 gene). KCNQ2 belongs to a large family of genes that provide instructions for making potassium channels. These channels open to allow the flow of positively charged atoms (ions) of potassium into and out of cells, and play a key role in a cell’s ability to generate and transmit electrical signals. Channels made with the KCNQ2 protein are active in nerve cells (neurons) in the brain, where they open to release potassium ions out of cells.
About the Case Study
The individual was diagnosed with early infantile epileptic encephalopathy combined with global developmental delay. The patient’s physician ordered genetic sequencing services that identified a de novo mutation in the KCNQ2 gene. Pairnomix created an in vitro cell model that recapitulated the gain-of-function effect of the mutation, resulting in significantly increased potassium flow. High-throughput screening in the cell model with 1,320 approved drugs yielded 60 drugs which significantly inhibited the phenotype conferred by the patient’s mutation. These drugs may represent potential therapeutic options for physicians to consider when evaluation patients with this specific mutation.
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.
About KCNQ2 Cure Alliance
The KCNQ2 Cure Alliance is an international organization that strives to educate and to advance research leading to treatments or a cure for patients living with the genetic disorder, KCNQ2. The Alliance supports efforts to raise awareness and improve diagnosis of KCNQ2, educate families and medical professionals about the disease, and advance research leading to improved treatments. Please visit www.kcnq2cure.org to learn more about KCNQ2 and how you can get involved with the KCNQ2 Cure Alliance Foundation.
PLYMOUTH, Minn., December 4, 2017 /PRNewswire/