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Metrion Biosciences Limited, and The KCNC1 Foundation are to collaborate to try and find a therapeutic for children. The KCNC1 Foundation is a not-for-profit organization focused on the development of a treatment for an ultra-rare genetic disorder. Variants of the KCNC1 gene impact Kv3.1 potassium channel function, resulting in neurodevelopmental disorders, which can include progressive myoclonic epilepsy (PME) and developmental epileptic encephalopathy (DEE). Metrion will start a hit identification research project for small molecule modulators of the potassium ion channel Kv3.1, targeting KCNC1-related disorders. Neurodevelopment disorders 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, Kv3.1. This is a potential therapeutic strategy for KCNC1-related disorders, identified as being the cause of KCNC1 related DEE. Stephanie Telesca, co-founder of the foundation, said: “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. We welcome any contributions toward The KCNC1 Foundation as we work hard to pave a path towards a cure.” KCNC1 Foundation welcomes contributions Metrion will develop cell lines for both wild type and variant Kv3.1, 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 Kv3.1 mutant channels. The 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. Andrew Southan, Metrion’s chief executive, said: “I would like to thank The KCNC1 Foundation for choosing Metrion to progress this discovery research program. Our team looks forward to helping the Foundation accomplish its goal to deliver efficacious treatments to patients as quickly as possible.”

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