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Treat-ION - Neue Therapien für neurologische Ionenkanal- und Transporterstörungen - Untersuchung der Pathophysiologie und Therapie für ausgewählte Ataxien, für hemiplegische Migräne und Anfälle sowie in iPSC abgeleiteten menschlichen Neuronen, Verbundkoordination"

01.11.2022 bis 31.10.2025

Treat-ION comprises clinicians and scientists to advance knowledge for diagnosing and treating rare neurological ion channel and transporter disorders (NICATD), including developmental delay, epilepsy, ataxia, migraine, or neuropathic pain. Due to a strong paralog conservation and fundamental function of channels and transporters to regulate neuronal excitability, pathophysiological and therapeutic principles are shared across the different disease entities. Our main goal is to translate findings from genetic and pathophysiological studies in cellular, animal, and human models into mechanism-based (precision) therapies. Experimental models will be complemented by in silico tools to predict the functional consequences of variants and searches for new therapeutic compounds.
Apart from focusing on approved ‘repurposed’ and available drugs, we will explore antisense oligonucleotides (ASOs) as therapeutic options in model
systems. We successfully performed retrospective analyses, n-of-1 studies, and case series that strongly indicate a clinical benefit of Na+ and K+ channel
modulators. Drug screening approaches and specific searches suggested new repurposed drugs to be explored in the next funding period in model
systems and patients. We will extend our NICATD registry, improve our prediction tools, and continue the successful strategy of molecular
therapeutic boards and individual expert advice. We will implement a standardized drug repurposing process and a clinical decision support
system, which will be made broadly available to the clinical and scientific community.
(Teilprojekte P1, P4, P7 und P8)