摘要
酶替代治疗(ERT)和造血干细胞移植(HSCT)是黏多糖贮积症Ⅱ型(MPSⅡ)现阶段的主要治疗方法。这两种疗法能够有效控制躯体症状恶化,但对中枢神经系统功能改善有限,其主要局限在于血脑屏障(BBB)会阻止包括酶在内的大分子物质进入脑内,从而影响治疗效果。基因治疗是一种新兴MPSⅡ治疗方法。本文将阐述MPSⅡ基因治疗临床前研究现状和正在进行的临床试验,以展示该领域的最新进展。
The two major treatments for mucopolysaccharidosis typeⅡ(MPSⅡ)are hematopoietic stem cell transplantation(HSCT)and enzyme replacement therapy(ERT).The restoration of central nervous system function is limited by these two therapies,although they are successful in controlling the worsening of physical symptoms.The main limitation is that the blood-brain barrier(BBB)prevents large molecules,including enzymes,from entering the brain,which can affect the effectiveness of treatment.Gene therapy is an emerging therapy for MPSⅡ.This article will describe the current preclinical research status and ongoing clinical trials of MPSⅡgene therapy to demonstrate the latest advances in this field.
作者
陈国庆
张惠文
CHEN Guoqing;ZHANG Huiwen(Department of Pediatric Endocrinology and Genetic Metabolism,Shanghai Institute for Pediatric Research,Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200082,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2024年第3期270-276,共7页
Journal of Clinical Pediatrics
关键词
黏多糖贮积症Ⅱ型
基因治疗
临床试验
腺相关病毒
mucopolysaccharidosis typeⅡ
gene therapy
clinical trial
adeno-associated virus
