罕见病的新型疗法
Novel Therapies for Orphan Diseases.
作者信息
García Fernández José M, Ortiz Mellet Carmen
机构信息
Instituto de Investigaciones Químicas (IIQ), CSIC-Universidad de Sevilla, Avda. Américo Vespucio 49, Isla de la Cartuja, 41092 Sevilla, Spain.
Department of Organic Chemistry, Faculty of Chemistry, University of Seville, C/Profesor García González 1, 41012 Seville, Spain.
出版信息
ACS Med Chem Lett. 2019 Jun 18;10(7):1020-1023. doi: 10.1021/acsmedchemlett.9b00242. eCollection 2019 Jul 11.
Abstract
"Orphan" does not mean infrequent: over 7000 rare diseases affect millions of individuals. The US Orphan Drug Act and analogous regulations have succeeded at accelerating the development of novel therapies, but high prices threaten sustainability. Lysosomal storage disorders serve here to illustrate the light and shadows of this burgeoning field.
摘要
“罕见病”并不意味着发病率低：超过7000种罕见病影响着数百万患者。美国《孤儿药法案》及类似法规已成功加速了新型疗法的研发，但高昂的价格威胁到了其可持续性。溶酶体贮积症可用来例证这一新兴领域的光明与阴影。
相似文献
1
Novel Therapies for Orphan Diseases.罕见病的新型疗法
ACS Med Chem Lett. 2019 Jun 18;10(7):1020-1023. doi: 10.1021/acsmedchemlett.9b00242. eCollection 2019 Jul 11.
2
Pressure for drug development in lysosomal storage disorders - a quantitative analysis thirty years beyond the US orphan drug act.溶酶体贮积症药物研发的压力——美国孤儿药法案颁布三十年后的定量分析
Orphanet J Rare Dis. 2015 Apr 18;10:46. doi: 10.1186/s13023-015-0262-5.
3
Novel Treatments for Rare Cancers: The U.S. Orphan Drug Act Is Delivering-A Cross-Sectional Analysis.罕见癌症的新型治疗方法：美国孤儿药法案正在发挥作用——一项横断面分析
Oncologist. 2016 Apr;21(4):487-93. doi: 10.1634/theoncologist.2015-0397. Epub 2016 Mar 28.
4
Novel treatments for rare rheumatologic disorders: analysis of the impact of 30 years of the US orphan drug act.罕见风湿性疾病的新型治疗方法：美国孤儿药法案30年影响分析
Orphanet J Rare Dis. 2016 May 12;11(1):60. doi: 10.1186/s13023-016-0443-x.
5
Therapies for inborn errors of metabolism: what has the orphan drug act delivered?先天性代谢缺陷的治疗方法：孤儿药法案带来了什么？
Pediatrics. 2010 Jul;126(1):101-6. doi: 10.1542/peds.2009-3246. Epub 2010 Jun 21.
6
Navigating through orphan medicinal product regulations in EU and US--similarities and differences.解读欧盟和美国的罕见病药品法规——异同之处
Regul Toxicol Pharmacol. 2015 Feb;71(1):63-7. doi: 10.1016/j.yrtph.2014.11.006. Epub 2014 Dec 8.
7
FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis.FDA 孤儿药认定用于溶酶体贮积症 - 一项横断面分析。
PLoS One. 2020 Apr 8;15(4):e0230898. doi: 10.1371/journal.pone.0230898. eCollection 2020.
8
Emerging drugs for lysosomal storage diseases.新兴的溶酶体贮积症治疗药物。
Expert Opin Emerg Drugs. 2010 Sep;15(3):495-507. doi: 10.1517/14728214.2010.498580.
9
Rare diseases, drug development, and AIDS: the impact of the Orphan Drug Act.罕见病、药物研发与艾滋病：《孤儿药法案》的影响
Milbank Q. 1995;73(2):231-52.
10
Orphan medicinal products in Europe and United States to cover needs of patients with rare diseases: an increased common effort is to be foreseen.欧美用于满足罕见病患者需求的孤儿药：预计将加大共同努力。
Orphanet J Rare Dis. 2017 Apr 3;12(1):64. doi: 10.1186/s13023-017-0617-1.
引用本文的文献
1
Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies.遗传性代谢疾病的临床与生化特征。第十五部分。癫痫
Mol Genet Metab. 2023 Nov;140(3):107690. doi: 10.1016/j.ymgme.2023.107690. Epub 2023 Aug 26.
2
New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies.遗传性代谢性儿科癫痫的新治疗方法。
Neurology. 2023 Jul 18;101(3):124-133. doi: 10.1212/WNL.0000000000207133. Epub 2023 Mar 6.
3
Making Sure That Orphan Incentives Tip the Right Way in Europe.确保欧洲孤儿药激励措施发挥正确作用。
Healthcare (Basel). 2022 Aug 23;10(9):1600. doi: 10.3390/healthcare10091600.
4
Small Molecule-Based Enzyme Inhibitors in the Treatment of Primary Hyperoxalurias.基于小分子的酶抑制剂在原发性高草酸尿症治疗中的应用
J Pers Med. 2021 Jan 27;11(2):74. doi: 10.3390/jpm11020074.
5
Thiol-ene "Click" Synthesis and Pharmacological Evaluation of -Glycoside sp-Iminosugar Glycolipids.巯基-烯“点击”合成及 -糖苷 sp-亚氨基糖脂类的药理学评价。
Molecules. 2019 Aug 8;24(16):2882. doi: 10.3390/molecules24162882.
本文引用的文献
1
The burden of rare diseases.罕见病的负担。
Am J Med Genet A. 2019 Jun;179(6):885-892. doi: 10.1002/ajmg.a.61124. Epub 2019 Mar 18.
2
Lysosomal storage disorders - challenges, concepts and avenues for therapy: beyond rare diseases.溶酶体贮积症——挑战、概念与治疗途径：超越罕见疾病。
J Cell Sci. 2019 Jan 16;132(2):jcs221739. doi: 10.1242/jcs.221739.
3
Estimating the clinical cost of drug development for orphan versus non-orphan drugs.估算孤儿药与非孤儿药药物研发的临床成本。
Orphanet J Rare Dis. 2019 Jan 10;14(1):12. doi: 10.1186/s13023-018-0990-4.
4
Investigating the landscape of US orphan product approvals.调查美国孤儿药批准的全景。
Orphanet J Rare Dis. 2018 Oct 22;13(1):183. doi: 10.1186/s13023-018-0930-3.
5
Drivers of Orphan Drug Development.罕见病药物研发的驱动因素。
ACS Med Chem Lett. 2018 Oct 1;9(10):962-964. doi: 10.1021/acsmedchemlett.8b00438. eCollection 2018 Oct 11.
6
Outrageous prices of orphan drugs: a call for collaboration.孤儿药价格离谱：呼吁合作。
Lancet. 2018 Sep 1;392(10149):791-794. doi: 10.1016/S0140-6736(18)31069-9. Epub 2018 Jul 20.
7
Emptying the stores: lysosomal diseases and therapeutic strategies.排空仓库：溶酶体贮积症与治疗策略。
Nat Rev Drug Discov. 2018 Feb;17(2):133-150. doi: 10.1038/nrd.2017.214. Epub 2017 Nov 17.
8
Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases.用于溶酶体贮积症的基于糖模拟物的药理伴侣分子：来自戈谢病、GM1神经节苷脂贮积症和法布里病的经验教训
Chem Commun (Camb). 2016 Apr 25;52(32):5497-515. doi: 10.1039/c6cc01564f.
9
Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease.伴侣蛋白疗法最新进展：法布里病、GM1神经节苷脂贮积症和戈谢病。
Brain Dev. 2013 Jun;35(6):515-23. doi: 10.1016/j.braindev.2012.12.002. Epub 2013 Jan 3.
10
Enzyme replacement for lysosomal diseases.用于溶酶体疾病的酶替代疗法
Annu Rev Med. 2006;57:283-96. doi: 10.1146/annurev.med.57.110104.115650.
Zotero 插件