黏多糖贮积症Ⅱ型的基因诊疗

doi:10.12372/jcp.2024.23e0682

摘要/Abstract

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。

关键词: 黏多糖贮积症Ⅱ型, 基因治疗, 临床试验, 腺相关病毒

Abstract:

The two major treatments for mucopolysaccharidosis type Ⅱ (MPS Ⅱ) 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 MPS Ⅱ. This article will describe the current preclinical research status and ongoing clinical trials of MPS Ⅱ gene therapy to demonstrate the latest advances in this field.

Key words: mucopolysaccharidosis type Ⅱ, gene therapy, clinical trial, adeno-associated virus

陈国庆, 张惠文. 黏多糖贮积症Ⅱ型的基因诊疗[J]. 临床儿科杂志, 2024, 42(3): 270-276.

CHEN Guoqing, ZHANG Huiwen. Gene therapy for mucopolysaccharidosis type Ⅱ[J]. Journal of Clinical Pediatrics, 2024, 42(3): 270-276.

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