Research Progress on the Effectiveness and Safety of Nusinersen in the Treatment of Spinal Muscular Atrophy
XU Ting-ting, LIU Xin, ZHANG Cui-lian, QU Jing-han, ZHANG Bo*
Department of Pharmacy, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China
Abstract：Spinal muscular atrophy(SMA) is a rare hereditary neuromuscular disease caused by a biallelic deletion or mutation of the survival motor neuron(SMN) 1 gene on chromosome 5q13.2 resulting in a lack of full-length SMN protein. The incidence is about 1/11 000, characterized by degeneration of the anterior horn cells of the spinal cord and the lower brainstem motor nucleus. The clinical manifestations are progressive muscle weakness and muscle atrophy. Nusinersen, as an antisense oligonucleotide(ASO), changes the splicing of SMN2 gene to increase the production of fully functional SMN protein to treat SMA. It was approved by the U.S. Food and Drug Administration(FDA) in 2016 as the first treatment for SMA in children and adults. This article will discuss the mechanism of action, pharmacodynamics, pharmacokinetics, clinical efficacy and accessibility of nusinersen, hoping to provide scientific reference for the rational and safe application of nusinersen in clinical practice.
许婷婷, 刘鑫, 张翠莲, 屈静晗, 张波. 诺西那生治疗脊髓性肌萎缩症有效性及安全性研究进展[J]. 中国药学杂志, 2022, 57(17): 1413-1418.
XU Ting-ting, LIU Xin, ZHANG Cui-lian, QU Jing-han, ZHANG Bo. Research Progress on the Effectiveness and Safety of Nusinersen in the Treatment of Spinal Muscular Atrophy. Chinese Pharmaceutical Journal, 2022, 57(17): 1413-1418.
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2022, Vol. 57 
