SYNGAP1: Charting our Rare Disease Treatment Path

摘要 SYNGAP1 2022大会：绘制我们的罕见疾病治疗之路 临床医生、研究人员和患者家属就治疗试验的道路达成共识。 在这个为期一天的会议上，演讲者将讨论目前在其他领域试验的有前途的技术， 更好地表征了遗传性癫痫，可以作为SYNGAP1中使用的模型。教训 将介绍从这些其他试验中吸取的经验教训，以便利用以前的经验和 突出SYNGAP1中的重要知识差距。演讲者还将介绍最新的表型和 SYNGAP1有希望的临床结果，以及自上一年以来神经生物学的进展 会议将于2020年举行。会议的首要目标是就以下问题达成共识 临床试验必须采取的可行步骤。会议还将促进互动 并通过主持的问答环节进行讨论，最后进行小组讨论 4个疗程中的每一个和一个分组会议来设计试验。初级调查员和 具有不同背景的个人将被邀请参加会议，并将被鼓励 在小组讨论中参与讨论。预期的会议结果将是 作为一份同行评议的手稿，总结会议记录，主题为 建立可操作目标的共识，以努力在SYNGAP1中进行基于基因的治疗试验。

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.