{"title":"Accelerating therapeutic development and clinical trial readiness for STXBP1 and SYNGAP1 disorders","authors":"","doi":"10.1016/j.cppeds.2024.101576","DOIUrl":null,"url":null,"abstract":"<div><p><span>Gene-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 </span><span><span>STXBP1</span></span> and <span><em>SYNGAP1</em></span><span> 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.</span></p></div>","PeriodicalId":49086,"journal":{"name":"Current Problems in Pediatric and Adolescent Health Care","volume":null,"pages":null},"PeriodicalIF":3.0000,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Problems in Pediatric and Adolescent Health Care","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S153854422400021X","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
Gene-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.
期刊介绍：
Recognized for its probing, comprehensive, and evidence-based reviews, Current Problems in Pediatric and Adolescent Health Care devotes each issue to a timely and practical topic in pediatric medicine, presented by leading authorities in the field. The journal offers readers easily accessible information that enhances professional experience and is pertinent to daily pediatric practice. Each issue''s review article is accompanied by an additional special feature designed to highlight a particular aspect of the topic presented.
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