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Gene replacement therapy in spinal muscular atrophy: filling the data gaps.脊髓性肌萎缩症的基因替代疗法：填补数据空白。
Lancet Reg Health Eur. 2023 Dec 22;37:100822. doi: 10.1016/j.lanepe.2023.100822. eCollection 2024 Feb.
2
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.用onasemnogene abeparvovec 基因替换疗法治疗年龄在 24 个月或以下且体重不超过 15 公斤的脊髓性肌萎缩症儿童：一项观察性队列研究。
Lancet Child Adolesc Health. 2022 Jan;6(1):17-27. doi: 10.1016/S2352-4642(21)00287-X. Epub 2021 Oct 29.
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From Clinical Trials to Clinical Practice: Practical Considerations for Gene Replacement Therapy in SMA Type 1.从临床试验到临床实践：SMA 类型 1 基因替代治疗的实际考虑因素。
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Overturning the Paradigm of Spinal Muscular Atrophy as Just a Motor Neuron Disease.颠覆脊髓性肌萎缩症仅仅是运动神经元疾病这一范式。
Pediatr Neurol. 2020 Aug;109:12-19. doi: 10.1016/j.pediatrneurol.2020.01.003. Epub 2020 Jan 22.
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[Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101 : Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)].[关于onasemnogene abeparvovec-AVXS-101治疗脊髓性肌萎缩症的基因治疗建议：德国小儿神经病学会（GNP）代表及德国治疗中心与德国肌肉疾病学会（DGM）医学科学咨询委员会合作达成的共识文件]
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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.
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Guidance on Gene Replacement Therapy in Spinal Muscular Atrophy: A Canadian Perspective.脊髓性肌萎缩症基因替代疗法指南：加拿大视角
Can J Neurol Sci. 2022 May;49(3):398-401. doi: 10.1017/cjn.2021.125. Epub 2021 Jun 4.
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Gene replacement therapy for spinal muscular atrophy unmasking occult hepatitis C in a pediatric patient.脊髓性肌萎缩症的基因替代疗法在一名儿科患者中揭示了隐匿性丙型肝炎。
Muscle Nerve. 2022 Jan;65(1):E2-E3. doi: 10.1002/mus.27439. Epub 2021 Oct 26.
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Hemophagocytic lymphohistiocytosis following gene replacement therapy in a child with type 1 spinal muscular atrophy.1 型脊髓性肌萎缩症患儿基因替代治疗后发生噬血细胞性淋巴组织细胞增生症。
J Clin Pharm Ther. 2022 Sep;47(9):1478-1481. doi: 10.1111/jcpt.13733. Epub 2022 Aug 4.
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Filling the gaps in knowledge translation: Physical therapy recommendations for individuals with spinal muscular atrophy compared to standard of care guidelines.填补知识转化的空白：与标准治疗指南相比，物理治疗建议用于患有脊髓性肌萎缩症的个体。
Neuromuscul Disord. 2021 May;31(5):397-408. doi: 10.1016/j.nmd.2021.02.011. Epub 2021 Feb 16.

引用本文的文献

1
Real-World Safety Data of the Orphan Drug Onasemnogene Abeparvovec (Zolgensma) for the SMA Rare Disease: A Pharmacovigilance Study Based on the EMA Adverse Event Reporting System.用于脊髓性肌萎缩症罕见病的孤儿药onasemnogene abeparvovec（Zolgensma）的真实世界安全性数据：一项基于欧洲药品管理局不良事件报告系统的药物警戒研究。
Pharmaceuticals (Basel). 2024 Mar 19;17(3):394. doi: 10.3390/ph17030394.

本文引用的文献

1
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.
2
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial.Onasemnogene abeparvovec 治疗有风险患脊髓性肌萎缩症的携带三个 SMN2 拷贝的无症状婴儿：III 期 SPR1NT 试验。
Nat Med. 2022 Jul;28(7):1390-1397. doi: 10.1038/s41591-022-01867-3. Epub 2022 Jun 17.
3
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.针对携带两个 SMN2 拷贝且有 1 型脊髓性肌萎缩症风险的婴儿进行的 Onasemnogene abeparvovec 治疗的 III 期 SPR1NT 试验。
Nat Med. 2022 Jul;28(7):1381-1389. doi: 10.1038/s41591-022-01866-4. Epub 2022 Jun 17.
4
[Gene-based treatment in spinal muscular atrophy].[脊髓性肌萎缩症的基因治疗]
Nervenarzt. 2022 Jun;93(6):549-556. doi: 10.1007/s00115-022-01295-1. Epub 2022 May 6.
5
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.用onasemnogene abeparvovec 基因替换疗法治疗年龄在 24 个月或以下且体重不超过 15 公斤的脊髓性肌萎缩症儿童：一项观察性队列研究。
Lancet Child Adolesc Health. 2022 Jan;6(1):17-27. doi: 10.1016/S2352-4642(21)00287-X. Epub 2021 Oct 29.
6
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.
7
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.
8
Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy.在使用onasemnogene abeparvovec（AVXS-101）治疗脊髓性肌萎缩症时发生的肝毒性。
J Hepatol. 2021 Mar;74(3):560-566. doi: 10.1016/j.jhep.2020.11.001. Epub 2020 Nov 10.

Gene replacement therapy in spinal muscular atrophy: filling the data gaps.

作者信息

Hagenacker Tim, Schara-Schmidt Ulrike

机构信息

Department of Neurology, Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Hufelandstr. 55, Essen 45147, Germany.

Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Hufelandstr. 55, Essen 45147, Germany.

出版信息

Lancet Reg Health Eur. 2023 Dec 22;37:100822. doi: 10.1016/j.lanepe.2023.100822. eCollection 2024 Feb.

DOI:10.1016/j.lanepe.2023.100822
PMID:38205071
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10776974/
Abstract
摘要