KCNQ2 Cure Alliance and Pairnomix today announced that they have completed the first case under their partnership investigating a genetic mutation implicated in KCNQ2 epileptic encephalopathy. They also report plans to extend the partnership for a second case involving an additional KCNQ2 genetic mutation.
Last year, the KCNQ2 Cure Alliance and Pairnomix entered into a collaboration to further explore genetic mutations in KCNQ2 epileptic encephalopathy with the goal of identifying more effective and more accurately targeted drug therapies. 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.
At the end of this first case evaluation, Pairnomix identified through cellular testing a series of drugs capable of inhibiting a gain-of-function KCNQ2 mutation. These drugs represent novel therapeutic options for the consideration of healthcare providers.
“We appreciate the thorough approach Pairnomix undertook while evaluating our first case together and we are excited to see the real-world application from this data,” said Jim Johnson, President of KCNQ2 Cure Alliance.
“The KCNQ2 Cure Alliance is a truly caring and supportive organization. We feel privileged to provide our services in an effort to support their community,” said Matthew Fox, CEO of Pairnomix.
Clinical evaluation of the top drug result is currently underway and the genetic evaluation of the second case has recently been initiated. Pairnomix and the KCNQ2 Cure Alliance will present data from the initial case at scientific conferences later this year including the annual meetings for Child Neurology Society (CNS), Society for Neuroscience (SfN), and American Epilepsy Society (AES).
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, which transport positively charged atoms (ions) of potassium into and out of cells, 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 transport potassium ions out of cells.
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 advancing personalized research for people living with 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 strives to educate and to advance researchleading 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.
DENVER and PLYMOUTH, Minn., July 20, 2017 /PRNewswire/