利斯地普兰在5q型脊髓性肌萎缩症中的临床应用综述。

IF 1 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

British journal of hospital medicine Pub Date : 2025-04-25 Epub Date: 2025-04-09 DOI:10.12968/hmed.2024.0808

Tong Zhao, Yang Xue, Miao-Shui Bai, Han-Yu Dong, Fei-Yong Jia

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引用次数: 0

摘要

5q脊髓性肌萎缩症（SMA）是由位于5号染色体上的存活运动神经元（SMN）基因突变引起的，导致SMN蛋白水平不足。Risdiplam是一种RNA剪接修饰剂，可修饰SMN2基因的前mrna剪接，从而促进功能存活运动神经元蛋白（SMN-fl）的产生。本文综述了利斯地普兰的临床试验，总结了实际临床资料，并对该药的有效性和安全性进行了系统评价。本文通过探讨该药的作用机制和经济成本，并与其他SMA药物进行比较，为该药的临床使用提供参考，为今后的临床研究提供思路。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Clinical Application of Risdiplam in 5q Spinal Muscular Atrophy: A Narrative Review.

5q spinal muscular atrophy (SMA) is caused by mutations in the survival motor neuron (SMN) gene located on chromosome 5, leading to insufficient SMN protein levels. Risdiplam is an RNA splicing modifier that modifies pre-mRNA splicing of the SMN2 gene, thereby promoting the production of functional survival motor neuron protein (SMN-fl). This article reviews the drug trials of Risdiplam, summarizes the actual clinical data, and systematically evaluates the effectiveness and safety of this drug. By discussing the mechanism of action and economic cost of this drug and comparing it to other SMA drugs, this paper provides a reference for the clinical use of the drug and an idea for future clinical research.

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来源期刊

British journal of hospital medicine 医学-医学：内科

CiteScore

1.50

自引率

0.00%

发文量

176

审稿时长

4-8 weeks

期刊介绍： British Journal of Hospital Medicine was established in 1966, and is still true to its origins: a monthly, peer-reviewed, multidisciplinary review journal for hospital doctors and doctors in training. The journal publishes an authoritative mix of clinical reviews, education and training updates, quality improvement projects and case reports, and book reviews from recognized leaders in the profession. The Core Training for Doctors section provides clinical information in an easily accessible format for doctors in training. British Journal of Hospital Medicine is an invaluable resource for hospital doctors at all stages of their career. The journal is indexed on Medline, CINAHL, the Sociedad Iberoamericana de Información Científica and Scopus.