基因治疗产品在遗传代谢病中的研发前景

摘要/Abstract

摘要：

随着生物医学技术的高速发展，基因治疗产品因其具有针对病因治疗以及长期疗效等多重优势，在多种类型疾病，特别是遗传性罕见病的治疗方面取得令人瞩目的进展。很长一段时间以来，酶替代治疗（ERT）被视为治疗某些遗传性代谢病（IMD）的唯一有效治疗，并得到较成熟应用。ERT是通过补充外源性酶，治疗因酶缺乏或功能障碍而导致的先天性代谢异常。由于外源酶蛋白的药理学、体内分布和药代等特征，可导致ERT存在治疗周期长、无法穿透血脑屏障、无法治愈疾病等局限性，使得仍有一部分IMD患者无法得到有效治疗或难以达到疾病痊愈的目标，临床需求有待进一步满足。目前，基于病毒载体的基因治疗产品、基因改造的干细胞产品等多种类型的基因治疗产品在治疗此类遗传代谢罕见病的临床研发中逐渐取得显著进展，为IMD治疗提供了新的选择。本研究在总结分析ERT治疗IMD临床现状的基础上，以治疗法布雷病的基因治疗产品为例，介绍基因治疗产品在该领域的研发进展，初步探讨基因治疗产品在遗传代谢病中的研发前景，以期为该领域的临床研发提供参考。

关键词: 基因治疗, 遗传代谢病, 酶替代疗法, 法布雷病

Abstract:

With the rapid development of the biomedical technology， gene therapy products have made remarkable progress in the treatment of various types of diseases， especially in the treatment of hereditary rare diseases， due to their multiple advantages， such as targeting the root causes of diseases and providing long-term efficacy. For a long period of time， enzyme replacement therapy （ERT） has been regarded as the only effective treatment for certain inherited metabolic disorders （IMD） and has been applied relatively maturely. ERT treats congenital metabolic abnormalities caused by enzyme deficiency or dysfunction by supplementing exogenous enzymes.However，due to the pharmacological， distribution， and pharmacokinetic characteristics of exogenous enzyme proteins， ERT has limitations such as long treatment cycles， inability to penetrate the blood-brain barrier， and inability to cure the disease. As a result， some IMD patients still cannot receive effective treatment or achieve complete recovery， and there is a need for further clinical solutions.Currently， various types of gene therapy products， including those based on viral vectors and genetically modified stem cell products， have gradually made significant progress in the clinical development for treating these rare hereditary metabolic disorders， offering new options for the treatment of IMD. Based on a summary and analysis of the clinical status of ERT for IMD， this study takes gene therapy products for Fabry disease as an example to introduce the research and development progress of gene therapy products in this field. It also preliminarily explores the development prospects of gene therapy products for inherited metabolic disorders， with the aim of providing references for clinical development in this area.

Key words: Gene therapy； , Inherited metabolic disorders , （ZMD）； , Enzyme replacement therapy , （ERT）； , Fabry disease

中图分类号:

R596
R91

王晶, 鲁爽.

基因治疗产品在遗传代谢病中的研发前景 [J]. 中国医药导刊, 2025, 27(7): 739-746.

WANG Jing, LU Shuang.

The Research and Development Prospects of Gene Therapy Products in Inherited Metabolic Disorders [J]. CHINESE JOURNAL OF MEDICINAL GUIDE, 2025, 27(7): 739-746.

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