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临床视角:脊髓性肌萎缩症的治疗

Clinical perspectives: Treating spinal muscular atrophy.

作者信息

McPheron Molly A, Felker Marcia V

机构信息

Department of Medical and Molecular Genetics, Indiana University, Indianapolis, IN 46202, USA.

Department of Neurology, Indiana University, Indianapolis, IN 46202, USA.

出版信息

Mol Ther. 2024 Aug 7;32(8):2489-2504. doi: 10.1016/j.ymthe.2024.06.020. Epub 2024 Jun 18.

Abstract

Spinal muscular atrophy is a rare and progressive neuromuscular disease that, without treatment, leads to progressive weakness and often death. A plethora of studies have led to the approval of three high-cost and effective treatments since 2016. These treatments, nusinersen, onasemnogene abeparvovec, and risdiplam, have not been directly compared and have varying challenges in administration. In this review, we discuss the evidence supporting the use of these medications, the process of treatment selection, monitoring after treatment, the limited data comparing treatments, as well as future directions for investigation and therapy.

摘要

脊髓性肌萎缩症是一种罕见的进行性神经肌肉疾病,若不进行治疗,会导致进行性肌无力,甚至常常导致死亡。自2016年以来,大量研究促使三种高成本且有效的治疗方法获批。这些治疗方法,即诺西那生钠、阿塔生坦基因疗法和利司扑兰,尚未进行直接比较,且在给药方面存在不同挑战。在本综述中,我们讨论了支持使用这些药物的证据、治疗选择过程、治疗后监测、比较不同治疗方法的有限数据,以及未来的研究和治疗方向。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ba4/11405177/c4f7fc57b74e/fx1.jpg

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