Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).
作者信息
Lander Julie M, Penon-Portmann Monica, Sutton V Reid, Chang Irene
机构信息
Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT.
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA.
出版信息
Genet Med Open. 2024 Apr 5;2:101832. doi: 10.1016/j.gimo.2024.101832. eCollection 2024.
Abstract
摘要
相似文献
1
Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).维曼纳酶α获批用于治疗α-甘露糖苷贮积症的非中枢神经系统表现：美国医学遗传学与基因组学学会（ACMG）的治疗公告
Genet Med Open. 2024 Apr 5;2:101832. doi: 10.1016/j.gimo.2024.101832. eCollection 2024.
2
Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis.韦曼酶阿尔法（人重组α-甘露糖苷酶）的酶替代疗法：α-甘露糖苷贮积症患者的新型全球治疗反应模型和结局。
Mol Genet Metab. 2018 Jun;124(2):152-160. doi: 10.1016/j.ymgme.2018.04.003. Epub 2018 Apr 18.
3
Extended long-term efficacy and safety of velmanase alfa treatment up to 12 years in patients with alpha-mannosidosis.α-甘露糖苷贮积症患者使用velmanase alfa治疗长达12年的长期疗效和安全性扩展研究
J Inherit Metab Dis. 2025 Jan;48(1):e12799. doi: 10.1002/jimd.12799. Epub 2024 Oct 9.
4
The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis.SPARKLE 注册研究：α-甘露糖苷贮积症患者国际前瞻性队列研究方案
Orphanet J Rare Dis. 2020 Sep 29;15(1):271. doi: 10.1186/s13023-020-01549-8.
5
Early biochemical effects of velmanase alfa in a 7-month-old infant with alpha-mannosidosis.Velmanase alfa对一名7个月大的α-甘露糖苷贮积症婴儿的早期生化影响。
JIMD Rep. 2020 Jul 10;55(1):15-21. doi: 10.1002/jmd2.12144. eCollection 2020 Sep.
6
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.重组人α-甘露糖苷酶（韦尔曼酶α）治疗α-甘露糖苷贮积症患者的全面长期疗效和安全性。
J Inherit Metab Dis. 2018 Nov;41(6):1225-1233. doi: 10.1007/s10545-018-0175-2. Epub 2018 May 3.
7
Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).olipudase alfa获批准用于治疗患有酸性鞘磷脂酶缺乏症（ASMD）的儿科和成人患者：美国医学遗传学与基因组学学会（ACMG）的治疗公报
Genet Med Open. 2023 Apr 17;1(1):100780. doi: 10.1016/j.gimo.2023.100780. eCollection 2023.
8
Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis.使用布鲁因inks-奥塞雷茨基运动技能测试（BOT-2）评估velmanase alfa作为α-甘露糖苷酶缺乏症酶疗法的疗效。
Mol Genet Metab Rep. 2020 Apr 8;23:100586. doi: 10.1016/j.ymgmr.2020.100586. eCollection 2020 Jun.
9
Diagnosis of alpha-Mannosidosis: Practical approaches to reducing diagnostic delays in this ultra-rare disease.诊断α-甘露糖苷贮积症：减少这种超罕见疾病诊断延误的实用方法。
Mol Genet Metab. 2024 May;142(1):108444. doi: 10.1016/j.ymgme.2024.108444. Epub 2024 Mar 14.
10
Can velmanase alfa be the next widespread potential therapy for alpha-mannosidosis?韦尔曼酶阿尔法能否成为α-甘露糖苷贮积症的下一个广泛潜在治疗方法？
Int J Surg. 2023 Sep 1;109(9):2882-2885. doi: 10.1097/JS9.0000000000000528.
本文引用的文献
1
Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study.velmanase alfa 治疗 6 岁以下 α-甘露糖苷贮积症儿童的长期安全性和疗效：一项 2 期、开放标签、多中心研究。
J Inherit Metab Dis. 2023 Jul;46(4):705-719. doi: 10.1002/jimd.12602. Epub 2023 Mar 13.
2
Global CNS correction in a large brain model of human alpha-mannosidosis by intravascular gene therapy.通过血管内基因治疗对人类α-甘露糖苷贮积症的大型大脑模型进行全球中枢神经系统矫正。
Brain. 2020 Jul 1;143(7):2058-2072. doi: 10.1093/brain/awaa161.
3
Pharmacological Chaperones for the Treatment of α-Mannosidosis.用于治疗α-甘露糖苷贮积症的药物伴侣
J Med Chem. 2019 Jun 27;62(12):5832-5843. doi: 10.1021/acs.jmedchem.9b00153. Epub 2019 May 2.
4
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial.Velmanase alfa 治疗 alpha-甘露糖苷贮积症患者的疗效和安全性：III 期多中心、双盲、随机、安慰剂对照试验核心和扩展阶段分析的结果。
J Inherit Metab Dis. 2018 Nov;41(6):1215-1223. doi: 10.1007/s10545-018-0185-0. Epub 2018 May 30.
5
Alpha-Mannosidosis: Therapeutic Strategies.α-甘露糖苷贮积症：治疗策略。
Int J Mol Sci. 2018 May 17;19(5):1500. doi: 10.3390/ijms19051500.
6
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.重组人α-甘露糖苷酶（韦尔曼酶α）治疗α-甘露糖苷贮积症患者的全面长期疗效和安全性。
J Inherit Metab Dis. 2018 Nov;41(6):1225-1233. doi: 10.1007/s10545-018-0175-2. Epub 2018 May 3.
7
Clarifying lysosomal storage diseases.澄清溶酶体贮积症。
Trends Neurosci. 2011 Aug;34(8):401-10. doi: 10.1016/j.tins.2011.05.006. Epub 2011 Jun 30.
8
Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients.同种异体造血干细胞移植治疗α-甘露糖苷贮积症：17 例患者分析。
Bone Marrow Transplant. 2012 Mar;47(3):352-9. doi: 10.1038/bmt.2011.99. Epub 2011 May 9.
Zotero 插件