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PRAX-222 Therapy for a Child: Prenatal Onset SCN2A Developmental and Epileptic Encephalopathy in a Named Patient Setting

Monday, April 22 2024 12:30 pm US EDT

Early onset SCN2A developmental and epileptic encephalopathy (SCN2A-DEE) is caused by gain-of-function variants SCN2A. The talk describes the first clinical experience with intrathecally administered PRAX-222, a gapmer ASO targeting SCN2A, in a preterm infant with prenatal onset SCN2A-DEE. Treatment revealed no severe or serious adverse events. After administration in combination with sodium channel blockers, status epilepticus was interrupted intermittently and ultimately ceased following continued dosing. A > 60% reduction in seizure frequency was observed, which could be sustained during follow-up.

Matias Wagner, MD, PHD

My academic and medical training, coupled with my extensive research experience, have provided me with a strong foundation in various disciplines, including genetics, epileptology, and electrophysiology. During my predoctoral studies, I had the opportunity to spend a year in the esteemed lab of Prof. Hanns Lochmüller in Newcastle upon Type. It was there that I acquired expertise in exome sequencing techniques and data interpretation. Additionally, I gained valuable experience in validating candidate variants through the application of primary myoblast and fibroblast cell culture techniques.

Following my graduation, I embarked on my residency at the Department of Human Genetics at the Technical University Munich (TUM). Under the guidance of Prof. Thomas Meitinger, I delved into the study of genotype-phenotype correlations in patients with rare neurogenetic disorders. Through this work, I successfully identified novel disease mechanisms and established several new gene-disease correlations. Concurrently, I had the opportunity to work in the Department of Pediatric Neurology at the Ludwig-Maximilian-University (LMU) Munich, led by Prof. Florian

Heinen. During my time there, my focus shifted towards epileptology, electrophysiology, and the development of treatment strategies for patients with rare disorders.

Currently, as I have completed my residency in human genetics, I am in the process of establishing my own research group as a senior researcher at the Institute of Neurogenomics, Helmholtz-Center Munich, under the supervision of Prof. Juliane Winkelmann. My primary research focus revolves around precision medicine for patients with monogenic epilepsies. This endeavor is

bolstered by the support of the Clinician Scientist program at TUM. Furthermore, I am fortunate to be a Fellow of the Hertie Network for Excellence in Clinical Neuroscience, which provides both funding and invaluable support, including career development activities and workshops designed to enhance my abilities in areas such as grant writing, public speaking, lab management, and mentoring students. Looking ahead, my long-term research goals revolve around gaining a comprehensive understanding of key developmental pathways in developmental and epileptic encephalopathies, with a specific emphasis on identifying druggable targets resulting from alterations in these pathways. By pursuing these goals, I aim to contribute to the advancement

of precision medicine and ultimately improve the lives of individuals affected by these debilitating conditions.



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