Gene therapy for spinal muscular atrophy: timing is key.
作者信息
Servais Laurent
机构信息
MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford and NIHR Oxford Biomedical Research Center, Oxford OX3 9DU, United Kingdom.
Neuromuscular Center of Liège, Division of Paediatrics, CHU and University of Liège, 1 Bvd du XII de Ligne, Liège 4000, Belgium.
出版信息
Lancet Reg Health Eur. 2024 Oct 21;47:101112. doi: 10.1016/j.lanepe.2024.101112. eCollection 2024 Dec.
Abstract
摘要
相似文献
1
Gene therapy for spinal muscular atrophy: timing is key.脊髓性肌萎缩症的基因治疗：时机是关键。
Lancet Reg Health Eur. 2024 Oct 21;47:101112. doi: 10.1016/j.lanepe.2024.101112. eCollection 2024 Dec.
2
Timing of SMN replacement therapies in mouse models of spinal muscular atrophy: a systematic review and meta-analysis.脊髓性肌萎缩症小鼠模型中SMN替代疗法的时机：系统评价与荟萃分析
Brain Commun. 2024 Aug 12;6(4):fcae267. doi: 10.1093/braincomms/fcae267. eCollection 2024.
3
Clinical decision making around commercial use of gene and genetic therapies for spinal muscular atrophy.临床决策围绕商业用途的基因和基因治疗脊髓性肌萎缩症。
Neurotherapeutics. 2024 Jul;21(4):e00437. doi: 10.1016/j.neurot.2024.e00437. Epub 2024 Sep 5.
5
Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review.脊髓性肌萎缩症的诊断延误：一项系统文献综述
Pediatr Neurol. 2015 Oct;53(4):293-300. doi: 10.1016/j.pediatrneurol.2015.06.002. Epub 2015 Jun 10.
6
Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.常染色体显性先天性脊髓性肌萎缩症：一种由前角细胞早期丢失引起的真正的脊髓性肌萎缩症形式。
Brain. 2012 Jun;135(Pt 6):1714-23. doi: 10.1093/brain/aws108.
7
Monitoring spinal muscular atrophy with three-dimensional optoacoustic imaging.利用三维光声成像监测脊髓性肌萎缩症。
Med. 2024 May 10;5(5):469-478.e3. doi: 10.1016/j.medj.2024.02.010. Epub 2024 Mar 25.
8
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.
9
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial.依洛硫酸酯酶 n 注射液治疗携带 2 个 SMN2 拷贝的脊髓性肌萎缩症婴儿起病型患者的症状：一项开放标签、单臂、多中心、3 期临床试验。
Lancet Neurol. 2021 Apr;20(4):284-293. doi: 10.1016/S1474-4422(21)00001-6. Epub 2021 Mar 17.
10
The neuromuscular impact of symptomatic SMN restoration in a mouse model of spinal muscular atrophy.脊髓性肌萎缩症小鼠模型中有症状性生存运动神经元恢复的神经肌肉影响
Neurobiol Dis. 2016 Mar;87:116-23. doi: 10.1016/j.nbd.2015.12.014. Epub 2015 Dec 28.
引用本文的文献
1
Results of the Hungarian Newborn Screening Pilot Program for Spinal Muscular Atrophy.匈牙利脊髓性肌萎缩症新生儿筛查试点项目的结果
Int J Neonatal Screen. 2025 Apr 23;11(2):29. doi: 10.3390/ijns11020029.
本文引用的文献
1
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.onasemnogene abeparvovec基因疗法在D-A-CH地区脊髓性肌萎缩症儿童中的疗效和安全性：一项基于人群的观察性研究。
Lancet Reg Health Eur. 2024 Oct 7;47:101092. doi: 10.1016/j.lanepe.2024.101092. eCollection 2024 Dec.
2
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.新生儿脊髓性肌萎缩症筛查的临床效果：一项非随机对照试验。
JAMA Pediatr. 2024 Jun 1;178(6):540-547. doi: 10.1001/jamapediatrics.2024.0492.
3
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.onasemnogene abeparvovec治疗1型脊髓性肌萎缩症儿童的疗效和安全性：来自英国6个输注中心的真实世界证据
Lancet Reg Health Eur. 2023 Dec 11;37:100817. doi: 10.1016/j.lanepe.2023.100817. eCollection 2024 Feb.
4
Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification.脊髓性肌萎缩症的联合疾病修正治疗：一种分类建议。
Ann Clin Transl Neurol. 2023 Nov;10(11):2155-2160. doi: 10.1002/acn3.51889. Epub 2023 Sep 10.
5
Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening-A Systematic Review.脊髓性肌萎缩症治疗在新生儿筛查识别患者中的应用：系统评价。
Genes (Basel). 2023 Jun 29;14(7):1377. doi: 10.3390/genes14071377.
6
Universal newborn screening for spinal muscular atrophy in Ukraine.乌克兰对脊髓性肌萎缩症进行新生儿普遍筛查。
Lancet. 2023 Jul 22;402(10398):288-289. doi: 10.1016/S0140-6736(23)01281-3.
7
Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening.症状或新生儿筛查发现的脊髓性肌萎缩症患者的经济成本和生活质量。
Dev Med Child Neurol. 2023 Jan;65(1):67-77. doi: 10.1111/dmcn.15286. Epub 2022 Jun 8.
8
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go.全球脊髓性肌萎缩症新生儿筛查计划：现状与展望。
Neuromuscul Disord. 2021 Jun;31(6):574-582. doi: 10.1016/j.nmd.2021.03.007. Epub 2021 Apr 7.
9
Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy.时间是运动神经元：脊髓性肌萎缩症的治疗窗口及其与发病机制的相关性。
Mol Neurobiol. 2018 Aug;55(8):6307-6318. doi: 10.1007/s12035-017-0831-9. Epub 2018 Jan 2.
10
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.依库珠单抗治疗婴儿型脊髓性肌萎缩症的疗效观察
N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752.
Zotero 插件