SYNGAP1: Charting our Rare Disease Treatment Path

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ABSTRACT The SYNGAP1 2022 Conference: Charting our Rare Disease Treatment Path will bring together clinicians, researchers, and patient families to develop consensus on a path toward treatment trials. In this day-long conference, presenters will address promising technologies currently in trials in other, better characterized genetic epilepsies that can serve as a model for use in SYNGAP1. Lessons learned from these other trials will be presented in order to capitalize on previous experiences and highlight vital knowledge gaps in SYNGAP1. Speakers will also present current phenotyping and promising clinical outcomes in SYNGAP1, as well as advances in neurobiology since the previous conference in 2020. An overarching goal of the conference is the development of consensus for actionable steps that must be taken toward clinical trials. The conference will also promote interaction and discussion through moderated question and answer sessions with panel discussions at the end of each of 4 sessions and a breakout small group session to design a trial. Junior investigators and individuals with diverse backgrounds will be invited to the conference and will be encouraged to participate in the discussion during the small group session. The expected conference outcome will be a peer-reviewed manuscript summarizing the proceedings of the meeting with the theme of building a consensus of actionable goals to work toward a gene-based therapy trial in SYNGAP1.