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2025 , Vol. 43 >Issue 1: 61 - 69

DOI: https://doi.org/10.12372/jcp.2025.23e0998

文献综述

脊髓性肌萎缩症疾病修正治疗真实世界研究进展

  • 吴献 ,
  • 刘艳 ,
  • 刘昕竹 ,
  • 黄晓会 ,
  • 马婧 ,
  • 徐阿晶 ,
  • 幸小东 ,
  • 蒋文高 ,
  • 张健
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  • 1.上海交通大学医学院附属新华医院（上海 200092）
    2.重庆医科大学药学院（重庆 400016）
张健 电子信箱：zhangjian@xinhuamed.com.cn

收稿日期: 2023-10-17

  录用日期: 2024-10-16

  网络出版日期: 2025-01-03

收起

Advances in real-world research on disease-modifying treatments for spinal muscular atrophy

  • WU Xian ,
  • LIU Yan ,
  • LIU Xinzhu ,
  • HUANG Xiaohui ,
  • MA Jing ,
  • XU A-jing ,
  • XIN Xiaodong ,
  • JIANG Wengao ,
  • ZHANG Jian
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  • 1. Department of Clinical Pharmacy, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, China
    2. Department of Pharmacy, Chongqing Medical University, Chongqing 400016, China

Received date: 2023-10-17

  Accepted date: 2024-10-16

  Online published: 2025-01-03

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摘要

脊髓性肌萎缩症（SMA）是一种遗传性的神经肌肉疾病，会导致患者出现渐进式的肌无力和肌萎缩，严重者甚至死亡。近年来，SMA修正治疗药物的出现，极大地改善了患者的临床症状及提升了患者的生活质量。此类药物的长期有效性和安全性，以及对疗效的各种影响因素尚未明确，需进一步监测和研究。本文通过对SMA修正治疗药物的真实世界有效性、安全性研究进行综述，以期对SMA精准化及个体化治疗提供一些新启发及思考。

关键词： 脊髓性肌萎缩症; 疾病修正治疗; 有效性; 安全性; 真实世界研究

本文引用格式

吴献 , 刘艳 , 刘昕竹 , 黄晓会 , 马婧 , 徐阿晶 , 幸小东 , 蒋文高 , 张健 . 脊髓性肌萎缩症疾病修正治疗真实世界研究进展[J]. 临床儿科杂志, 2025 , 43(1) : 61 -69 . DOI: 10.12372/jcp.2025.23e0998

Abstract

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that leads to muscle weakness, atrophy, and which can lead to death in severe cases. Recently, therapeutic drugs that can modify SMA have emerged and have significantly improved the clinical symptoms and the quality of life of patients. However, the long-term efficacy and safety of these drugs are not yet established, and various confounding factors affecting drug efficacy need further analysis and study. This article reviews the real-world efficacy and safety studies of drugs for SMA modification drugs, intending to provide some new inspirations and thaughts for the precision and individualized treatment of SMA.

Key words： spinal muscular atrophy; disease-modifying therapy; efficacy; safety; real-world research

参考文献

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