最近关于脊髓性肌萎缩症治疗的研究。
Recent research on the treatment of spinal muscular atrophy.
机构信息
School of Public Health and Management, Guangxi University of Chinese Medicine, Nanning 530022, China.
出版信息
Zhongguo Dang Dai Er Ke Za Zhi. 2022 Feb 15;24(2):204-209. doi: 10.7499/j.issn.1008-8830.2110041.
Abstract
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscular weakness and atrophy. SMA, as an inherited disease, is the leading cause of death in infants and young children. Rapid progress has been made in the research field of SMA in recent years, and some related treatment drugs have been successfully approved for marketing. This article reviews the recent research advances in the treatment of SMA.
摘要
脊髓性肌萎缩症（SMA）是一种常染色体隐性神经肌肉疾病，其特征是进行性肌肉无力和萎缩。SMA 作为一种遗传病，是婴儿和幼儿死亡的主要原因。近年来，SMA 研究领域取得了快速进展，一些相关的治疗药物已成功获准上市。本文综述了 SMA 治疗的最新研究进展。
相似文献
1
Recent research on the treatment of spinal muscular atrophy.最近关于脊髓性肌萎缩症治疗的研究。
Zhongguo Dang Dai Er Ke Za Zhi. 2022 Feb 15;24(2):204-209. doi: 10.7499/j.issn.1008-8830.2110041.
2
Established Stem Cell Model of Spinal Muscular Atrophy Is Applicable in the Evaluation of the Efficacy of Thyrotropin-Releasing Hormone Analog.已建立的脊髓性肌萎缩症干细胞模型可用于评估促甲状腺激素释放激素类似物的疗效。
Stem Cells Transl Med. 2016 Feb;5(2):152-63. doi: 10.5966/sctm.2015-0059. Epub 2015 Dec 18.
3
[Risdiplam for the treatment of spinal muscular atrophy].用于治疗脊髓性肌萎缩症的利司扑兰
Zh Nevrol Psikhiatr Im S S Korsakova. 2024;124(2):45-57. doi: 10.17116/jnevro202412402145.
4
The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophy.口服剪接修饰剂 RG7800 增加运动神经元 2 mRNA 的全长存活和运动神经元蛋白的存活：在健康成年人和脊髓性肌萎缩症患者中进行的试验结果。
Neuromuscul Disord. 2019 Jan;29(1):21-29. doi: 10.1016/j.nmd.2018.10.001. Epub 2018 Oct 30.
5
Nusinersen for the treatment of spinal muscular atrophy.依库珠单抗治疗脊髓性肌萎缩症。
Expert Rev Neurother. 2017 Oct;17(10):955-962. doi: 10.1080/14737175.2017.1364159. Epub 2017 Sep 8.
6
Spinal muscular atrophies.脊髓性肌萎缩症
Pediatr Clin North Am. 2015 Jun;62(3):743-66. doi: 10.1016/j.pcl.2015.03.010. Epub 2015 Apr 11.
7
Spinal Muscular Atrophy Treatment: The MTOR Regulatory Intervention.脊髓性肌萎缩症治疗：mTOR调节干预
Curr Med Chem. 2024;31(12):1512-1522. doi: 10.2174/0929867330666230213114909.
8
Current advances in drug development in spinal muscular atrophy.脊髓性肌萎缩症药物研发的最新进展。
Curr Opin Pediatr. 2013 Dec;25(6):682-8. doi: 10.1097/MOP.0b013e32836565ac.
9
Advances and limitations for the treatment of spinal muscular atrophy.脊髓性肌萎缩症治疗的进展与局限。
BMC Pediatr. 2022 Nov 3;22(1):632. doi: 10.1186/s12887-022-03671-x.
10
Spinal Muscular Atrophy and Common Therapeutic Advances.脊髓性肌萎缩症与常见治疗进展
Fetal Pediatr Pathol. 2019 Jun;38(3):226-238. doi: 10.1080/15513815.2018.1520374. Epub 2019 May 7.
本文引用的文献
1
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial.针对 1 型脊髓性肌萎缩症（SMA）的婴儿期起病症状性的 Onasemnogene abeparvovec 基因治疗（STR1VE-EU）：一项开放标签、单臂、多中心、3 期临床试验。
Lancet Neurol. 2021 Oct;20(10):832-841. doi: 10.1016/S1474-4422(21)00251-9.
2
Combination therapy with onasemnogene and risdiplam in spinal muscular atrophy type 1.脊髓性肌萎缩症 1 型的onasemnogene 和 risdiplam 联合治疗。
Muscle Nerve. 2021 Oct;64(4):487-490. doi: 10.1002/mus.27375. Epub 2021 Jul 31.
3
A Randomized Phase 1 Safety, Pharmacokinetic and Pharmacodynamic Study of the Novel Myostatin Inhibitor Apitegromab (SRK-015): A Potential Treatment for Spinal Muscular Atrophy.一种新型肌抑素抑制剂 Apitegromab（SRK-015）的随机 1 期安全性、药代动力学和药效学研究：一种潜在的治疗脊髓性肌萎缩症的方法。
Adv Ther. 2021 Jun;38(6):3203-3222. doi: 10.1007/s12325-021-01757-z. Epub 2021 May 8.
4
Prenatal transplantation of human amniotic fluid stem cell could improve clinical outcome of type III spinal muscular atrophy in mice.产前移植人羊水干细胞可改善 III 型脊髓性肌萎缩症小鼠的临床结局。
Sci Rep. 2021 Apr 28;11(1):9158. doi: 10.1038/s41598-021-88559-z.
5
Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study.雷尔德西替利姆治疗肌萎缩性脊髓侧索硬化症患者的 2 期探索性研究。
Neurotherapeutics. 2021 Apr;18(2):1127-1136. doi: 10.1007/s13311-020-01004-3. Epub 2021 Feb 23.
6
Multidisciplinary approach and psychosocial management of spinal muscular atrophy (SMA).脊髓性肌萎缩症（SMA）的多学科方法和心理社会管理。
Arch Pediatr. 2020 Dec;27(7S):7S45-7S49. doi: 10.1016/S0929-693X(20)30277-3.
7
Risdiplam: First Approval.利司扑兰：首个获批药物
Drugs. 2020 Nov;80(17):1853-1858. doi: 10.1007/s40265-020-01410-z.
8
Combination molecular therapies for type 1 spinal muscular atrophy.1 型脊髓性肌萎缩症的联合分子治疗。
Muscle Nerve. 2020 Oct;62(4):550-554. doi: 10.1002/mus.27034. Epub 2020 Aug 10.
9
New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand?脊髓性肌萎缩症的新疗法和发展疗法：从基因型到表型再到治疗，我们现在处于什么位置？
Int J Mol Sci. 2020 May 7;21(9):3297. doi: 10.3390/ijms21093297.
10
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.在脊髓性肌萎缩症的前症状期对婴儿期开始用 nusinersen：2 期 NURTURE 研究的中期疗效和安全性结果。
Neuromuscul Disord. 2019 Nov;29(11):842-856. doi: 10.1016/j.nmd.2019.09.007. Epub 2019 Sep 12.
Zotero 插件