A Prospective Natural History Study Protocol for Clinical Trial Readiness in Synaptic Disorders

<i>STXBP1</i> -Related Disorder ( <i>STXBP1</i> -RD) and <i>SYNGAP1</i> -Related Disorder ( <i>SYNGAP1</i> -RD) are two common genetic causes of epilepsy, developmental delay, and intellectual disability. <i>STXBP1</i> -RD and <i>SYNGAP1</i> -RD are potential targets for drug and gene therapy, but there is limited information in the literature describing the natural history of either disorder which impedes the development of possible therapeutics. The current paper is a description of a prospective natural history study of <i>STXBP1</i> -RD and <i>SYNGAP1</i> -RD which will assess the clinical spectrum of each disorder through detailed developmental assessments, seizure histories, behavioral assessments, and electronic medical record reconstruction. By studying <i>STXBP1</i> -RD and SYNGAP1-RD with both cross sectional and longitudinal assessments, we aim to improve clinical trial readiness so that potential treatments can be assessed expeditiously.