Research targeted at identifying novel inhibitors or activators of Kv3.1 mutation

Cambridge, UK, and Toronto, Canada, 07 December 2022: Metrion Biosciences Limited (“Metrion”), the specialist ion channel contract research and drug discovery company, and The KCNC1 Foundation, a not-for-profit organisation focused on the development of a treatment for an ultra rare genetic disorder, today announced a collaboration to progress a hit identification research project for small molecule modulators of the potassium ion channel K_v3.1, targeting KCNC1-related disorders.

Variants of the KCNC1 gene impact K_v3.1 potassium channel function, resulting in neurodevelopmental disorders which can include progressive myoclonic epilepsy (PME) and developmental epileptic encephalopathy (DEE). Symptoms of KCNC1 disorder include seizures during infancy, vision impairment, developmental delay, intellectual disability and many others. The collaboration is focused on the identification of small molecule modulators of the variant potassium ion channel, K_v3.1 as a potential therapeutic strategy for KCNC1-related disorders, identified as being the cause of KCNC1 related DEE. Metrion will develop cell lines for both wild type and variant K_v3.1, to establish a fluorescence-based screen using FLIPR^® Penta, a high-throughput cellular screening system. The high-throughput screen will then be used to identify novel inhibitors or activators of K_v3.1 mutant channels.

The KCNC1 Foundation was created by the parents of a child diagnosed with KCNC1-related DEE to support research aimed at accelerating the development of a cure, as well as to raise awareness to identify and connect patients and provide support for families.

““We are very excited to collaborate with Metrion on the possibility of identifying a potential therapeutic for children with KCNC1-related disorder. This is our first step of many to address the pathophysiology of the disorder, to give individuals suffering the opportunity to reach their full potential.” Stephanie Telesca, Co-Founder of The KCNC1 Foundation, commented. “We welcome any contributions toward The KCNC1 Foundation as we work hard to pave a path towards a cure.”

Dr Andrew Southan, Metrion’s Chief Executive, said: “I would like to thank The KCNC1 Foundation for choosing Metrion to progress this discovery research programme. Our team looks forward to helping the Foundation accomplish its goal to deliver efficacious treatments to patients as quickly as possible.”

For more information, please visit www.metrionbiosciences.com and www.kcnc1.org.

Donations to The KCNC1 Foundation can be made through gofundme or, for those in the USA, through the organisation’s fiscal sponsor The Rare Village.