Ion channel modulators for ultra-rare genetic disorder 

Human neurone

Metrion Biosciences, a 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, have entered a collaboration to progress a hit identification research project for small molecule modulators of the potassium ion channel Kv3.1, targeting KCNC1-related disorders such as progressive myoclonic epilepsy (PME) and developmental epileptic encephalopathy (DEE).

Variants of the KCNC1 gene impact Kv3.1 potassium channel function, resulting in neuro-developmental disorders which can include PME and 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, Kv3.1 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 Kv3.1, to establish a fluorescence-based screen. The high-throughput screen will then be used to identify novel inhibitors or activators of Kv3.1 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.” said Stephanie Telesca, Co-Founder of The KCNC1 Foundation.  

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