Accelerating therapeutic development and clinical trial readiness for STXBP1 and SYNGAP1 disorders

Curr Probl Pediatr Adolesc Health Care. 2024 Mar 11:101576. doi: 10.1016/j.cppeds.2024.101576. Online ahead of print.ABSTRACTGene-targeted therapies for genetic neurodevelopmental disorders (NDDs) are becoming a reality. The Center for Epilepsy and Neurodevelopmental Disorders (ENDD) is currently focused on the development of therapeutics for STXBP1 and SYNGAP1 disorders. Here we review the known clinical features of these disorders, highlight the biological role of STXBP1 and SYNGAP1, and discuss our current understanding of pathogenic mechanisms and therapeutic development. Finally, we provide our perspective as scientists and parents of children with NDDs, and comment on the current challenges for both clinical and basic science endeavors.PMID:38472035 | DOI:10.1016/j.cppeds.2024.101576
Source: Epilepsy Curr - Category: Neurology Authors: Source Type: research