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New therapies for Pompe disease: are we closer to a cure?

作者信息

Puertollano Rosa, Raben Nina

机构信息

Cell and Developmental Biology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Cell and Developmental Biology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

出版信息

Lancet Neurol. 2021 Dec;20(12):973-975. doi: 10.1016/S1474-4422(21)00358-6.

DOI:10.1016/S1474-4422(21)00358-6
PMID:34800404
Abstract
摘要

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New therapies for Pompe disease: are we closer to a cure?庞贝病的新疗法：我们离治愈更近了吗？
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引用本文的文献

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Challenges in multinational rare disease clinical studies during COVID-19: regulatory assessment of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease.2019冠状病毒病期间跨国罕见病临床研究面临的挑战：阿加糖苷酶α联合米格列醇治疗晚发型庞贝病成人患者的监管评估
J Neurol. 2025 Jan 7;272(1):103. doi: 10.1007/s00415-024-12843-x.
2
Failure of Autophagy in Pompe Disease.庞贝病中的自噬失败。
Biomolecules. 2024 May 13;14(5):573. doi: 10.3390/biom14050573.
3
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).
阿法糖苷酶α联合米格鲁司他治疗晚发型庞贝病成人患者的104周疗效和安全性：一项III期开放标签扩展研究（ATB200-07）
J Neurol. 2024 May;271(5):2810-2823. doi: 10.1007/s00415-024-12236-0. Epub 2024 Feb 28.
4
Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes.基于组学的庞贝病代谢表型特征分析方法
Biology (Basel). 2023 Aug 23;12(9):1159. doi: 10.3390/biology12091159.
5
AAV-mediated delivery of secreted acid α-glucosidase with enhanced uptake corrects neuromuscular pathology in Pompe mice.腺相关病毒介导的分泌型酸性α-葡萄糖苷酶转导增强摄取纠正庞贝病小鼠的神经肌肉病理。
JCI Insight. 2023 Aug 22;8(16):e170199. doi: 10.1172/jci.insight.170199.
6
Neuromuscular disease: 2022 update.神经肌肉疾病：2022年最新进展
Free Neuropathol. 2022 Mar 4;3:5. doi: 10.17879/freeneuropathology-2022-3805. eCollection 2022 Jan.