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11. 发明申请

WO2008128106A1 TREATMENT OF GAUCHER DISEASE WITH SPECIFIC PHARMACOLOGICAL CHAPERONES AND MONITORING TREATMENT USING SURROGATE MARKERS 审中-公开
标题翻译：用特定的药物治疗方法治疗高血压病和使用现代标记物进行监测治疗
公开(公告)号：WO2008128106A1
公开(公告)日：2008-10-23
申请号：PCT/US2008/060116
申请日：2008-04-11
申请人： AMICUS THERAPEUTICS, INC. , LOCKHART, David
发明人： LOCKHART, David
IPC分类号： A01N43/42 , A61K31/44
CPC分类号： G01N33/92 , G01N2405/10 , G01N2800/52
摘要： Provided is a method of monitoring the treatment of Gaucher disease with specific pharmacological chaperones using systemic and/or cellular surrogate markers. Also provided is a new biomarker that may be used to monitor the progress of such treatment.
摘要翻译：提供了使用全身和/或细胞代谢标记物来监测具有特定药物伴侣的戈谢病治疗的方法。还提供了可用于监测这种治疗进展的新生物标志物。

12. 发明申请

WO2006133447A1 CRYSTALLINE SUGAR COMPOSITIONS AND METHOD OF MAKING 审中-公开
标题翻译：水晶糖组合物及其制备方法
公开(公告)号：WO2006133447A1
公开(公告)日：2006-12-14
申请号：PCT/US2006/022755
申请日：2006-06-08
申请人： AMICUS THERAPEUTICS, INC. , MAJOR, Michael , PETERSON, Robert , LINSE, Daniel , KOSINSKI, Szymon
发明人： MAJOR, Michael , PETERSON, Robert , LINSE, Daniel , KOSINSKI, Szymon
IPC分类号： C07H13/00 , C07H13/02 , C07H15/00
CPC分类号： C07H15/00 , C07H5/04 , C07H13/00 , C07H13/02
摘要： Described are novel crystalline pivaloyl furanoses and methods of crystallizing the pivaloyl furanoses. These compounds are useful as intermediates in the synthesis of compounds such as the deoxyjirimycins and nojirimycins and are particularly useful as intermediates for production on a multi-kg scale. Particular crystalline compounds include 1,2,3,6-tetrapivaloyl-α-D-galactofuranose, 1,2,3,6- tetrapivaloyl-α-L-altrofuranose, and 5-azido-5-deoxy-l,2,3,6-tetrapivaloyl-α-D- galactofuranose.
摘要翻译：描述了新颖的结晶新戊酰呋喃糖和结晶新戊酰呋喃糖的方法。这些化合物可用作合成化合物如脱氧吉西林和nojirimycins的中间体，并且特别适用于以多kg规模生产的中间体。特别的结晶化合物包括1,2,3,6-四新戊酰基-DA-半乳糖呋喃糖，1,2,3,6-四新戊酰基-al-呋喃核糖和5-叠氮基-5-脱氧-1,2,3,6-四新戊酰 -a-半乳糖呋喃糖。

13. 发明申请

WO2006133446A2 TREATMENT OF CNS DISORDERS ASSOCIATED WITH MUTATIONS IN GENES ENCODING LYSOSOMAL ENZYMES 审中-公开
标题翻译：中枢神经系统疾病的治疗与基因中编码LYSOSOMAL ENZYMES的突变相关
公开(公告)号：WO2006133446A2
公开(公告)日：2006-12-14
申请号：PCT/US2006/022754
申请日：2006-06-08
申请人： AMICUS THERAPEUTICS, INC. , WUSTMAN, Brandon
发明人： WUSTMAN, Brandon
IPC分类号： A61K31/4745 , C12Q1/68 , C12Q1/34
CPC分类号： A61K31/45 , A61K31/194 , A61K31/435 , A61K31/437 , A61K31/445 , A61K31/713 , C12Q1/34 , C12Q1/6876 , C12Q2600/156 , G01N33/6896 , G01N2800/2835
摘要： Described is a method for treating an individual having a neurological disorder with an associated mutation or mutations in a gene encoding a lysosomal enzyme. Specifically, the individual is administered a specific pharmacological chaperone for the lysosomal enzyme which increases trafficking of the protein from the ER to the lysosome in neural cells, with or without concomitantly increasing enzyme activity in neural cells. Restoration of trafficking relieves cell stress and other toxicities associated with accumulation of mutant proteins. Restoration of enzyme activity relieves substrate accumulation and pathologies associated with lipid accumulation. In a specific embodiment, the neurological disorder is Parkinson's disease or parkinsonism which is associated with mutations in glucocerebrosidase.
摘要翻译：描述了一种在编码溶酶体酶的基因中治疗具有相关突变或突变的神经障碍个体的方法。具体地说，给个体施用溶酶体酶的特异性药物伴侣，其在神经细胞中增加蛋白质从ER到溶酶体的运输，伴随或不伴随神经细胞中的酶活性增加。贩运的恢复减轻了与突变蛋白质积累相关的细胞压力和其他毒性。酶活性的恢复减轻了与脂质积累相关的底物积累和病理。在具体实施方案中，神经障碍是与葡萄糖脑苷脂酶突变有关的帕金森病或帕金森综合征。

14. 发明申请

WO2005046612A2 HYDROXY PIPERIDINE DERIVATIVES TO TREAT GAUCHER DISEASE 审中-公开
标题翻译：羟基哌啶衍生物治疗高加索病
公开(公告)号：WO2005046612A2
公开(公告)日：2005-05-26
申请号：PCT/US2004037704
申请日：2004-11-12
申请人： AMICUS THERAPEUTICS INC , FAN JIAN-QIANG , ZHU XIAOXIANG , SHETH KAMLESH
发明人： FAN JIAN-QIANG , ZHU XIAOXIANG , SHETH KAMLESH
IPC分类号： A61K20060101 , A61K31/437 , A61K31/445 , A61K31/454 , A61K31/4745 , A61K31/50 , A61K31/501 , A61K48/00 , A61P43/00 , C07D211/40 , C07D471/02 , C07D471/04 , A61K
CPC分类号： C07D487/04
摘要： The present invention provides novel hydroxy piperidine (HP) derivatives having (i) a positive charge at the position corresponding to the anomeric position of a pyranose ring; (ii) a short, flexible linker emanating from the corresponding position of the ring oxygen in a pyranose; and (iii) a lipophilic moiety connected to the linker and pharmaceutically acceptable salts thereof. The linker can be absent if the lipophilic moiety corresponds to a hydrocarbon chain with a linear length of 6 or more carbons. The present invention further provides a method for treating individuals having Gaucher disease by administering the novel HP derivative as "chaperones" for the mutant glucocerebrosidase associated with the disease.
摘要翻译：本发明提供了新的羟基哌啶（HP）衍生物，其具有（i）在对应于吡喃糖环的异头位置的位置处的正电荷; （ii）从环氧在吡喃糖中的相应位置发出的短的柔性连接体; 和（iii）与接头连接的亲脂性部分及其药学上可接受的盐。如果亲脂性部分对应于具有6或更多碳的线性长度的烃链，那么接头可以不存在。本发明进一步提供了一种治疗患有戈谢病的个体的方法，其通过将所述新型HP衍生物作为与所述疾病相关的突变型葡糖脑苷脂酶的“分子伴侣”进行施用。

15. 发明申请

WO2023086928A2 GENE THERAPY FOR TREATMENT OF MUCOPOLYSACCHARIDOSIS IIIA 审中-公开
公开(公告)号：WO2023086928A2
公开(公告)日：2023-05-19
申请号：PCT/US2022/079701
申请日：2022-11-11
申请人： THE TRUSTEES OF THE UNIVERSITY OF PENNSYLVANIA , AMICUS THERAPEUTICS, INC.
发明人： HORDEAUX, Juliette , WILSON, James, M. , RASSOULI-TAYLOR, Leida , DO, Hung , TUSKE, Steven
IPC分类号： C12N15/861 , A61K35/761 , A61K48/00 , A61K38/46 , C12N9/14 , C12N15/86 , A61K35/76
摘要： Provided herein is a recombinant AAV (rAAV) comprising an AAV capsid and a vector genome packaged therein, wherein the vector genome comprises an AAV 5' inverted terminal repeat (ITR), an engineered nucleic acid sequence encoding a functional hSGSH, optionally comprising stabilizing amino acid changes, a regulatory sequence which direct expression of hSGSH in a target cell, and an AAV 3' ITR. Also provided is a pharmaceutical composition comprising a rAAV as described herein in a formulation buffer, and a method of treating a human subject diagnosed with MPS IIIA.

16. 发明申请

WO2023060233A1 BIOMARKERS FOR LYSOSOMAL STORAGE DISEASES 审中-公开
公开(公告)号：WO2023060233A1
公开(公告)日：2023-04-13
申请号：PCT/US2022/077760
申请日：2022-10-07
申请人： AMICUS THERAPEUTICS, INC. , SANFORD HEALTH
发明人： BRUDVIG, Jon , WEINER, Jill , JOHNSON, Tyler , CAIN, Jacob , TIMM, Derek
IPC分类号： G01N33/68 , A61K48/00 , G01N33/92 , A01K2217/075 , A01K2227/105 , A01K2227/108 , A01K2267/03 , C07K14/47 , C12N9/00 , G01N2570/00 , G01N2800/04 , G01N2800/38 , G01N33/6893
摘要： Methods of determining a disease score of a patient diagnosed with lysosomal storage disease (LSD) are described. The disease score includes one or more of the following: (i) one or more biofluid biomarkers; (ii) one or more neurophysiological measurements; and (iii) one or more neurobehavior measurement. Also described method of treating LSD including determining the disease score and administering to the patient a therapy. The therapy includes one or more of the following: (i) enzyme replacement therapy, (ii) gene therapy; and (iii) a small molecule.

17. 发明申请

WO2023279073A1 NEUROTENSIN VARIANTS AND TAGGED PROTEINS COMPRISING NEUROTENSIN OR SORTILIN PROPEPTIDE 审中-公开
公开(公告)号：WO2023279073A1
公开(公告)日：2023-01-05
申请号：PCT/US2022/073333
申请日：2022-07-01
申请人： AMICUS THERAPEUTICS, INC.
发明人： EISENACH, Helen , TUSKE, Steven
IPC分类号： C07K7/08 , C07K14/72 , C12N15/62 , C07K2319/06 , C07K2319/74 , C07K7/083 , C12Y302/0102
摘要： The disclosure provides amino acid sequences for neurotensin variants as well as recombinant proteins that contain neurotensin, sortilin propeptide, or variants thereof. The disclosure also provides method of production and method for determining cellular uptake for the recombinant proteins. Gene therapy compositions, pharmaceutical compositions, methods of treatment, and uses of the gene therapy compositions and the recombinant proteins are also disclosed.

18. 发明申请

WO2022032140A2 VESICLE TARGETING PROTEINS AND USES OF SAME 审中-公开
公开(公告)号：WO2022032140A2
公开(公告)日：2022-02-10
申请号：PCT/US2021/045012
申请日：2021-08-06
申请人： AMICUS THERAPEUTICS, INC.
发明人： BAUMAN, Joseph , WU, Xiaoyang , MCANANY, Yuliya
IPC分类号： A61K48/00 , A61K9/51 , A61K47/42 , A61K38/45 , A61K38/47 , A61K38/4813 , C07K14/00 , C07K2319/033 , C07K2319/055 , C12N15/86 , C12Y207/11 , C12Y302/0101 , C12Y302/0105 , C12Y304/14009
摘要： The disclosure provides a novel method for treating genetic disorders where a peptide sequence targets proteins produced via gene therapy into exosomes. These protein-loaded exosomes can enter into non-transduced cells and correct pathology. Also, gene therapy compositions, protein replacement therapy composition, pharmaceutical compositions, methods of treatment, and uses of the gene therapy compositions and the recombinant proteins are also disclosed. The method can also be used to improve in vitro recombinant protein yield.

19. 发明申请

WO2020154354A1 USE OF MIGALOSTAT IN REDUCING THE RISK OF CEREBROVASCULAR EVENT IN PATIENTS WITH FABRY DISEASE 审中-公开
公开(公告)号：WO2020154354A1
公开(公告)日：2020-07-30
申请号：PCT/US2020/014531
申请日：2020-01-22
申请人： AMICUS THERAPEUTICS, INC.
发明人： SKUBAN, Nina , LAGAST, Hjalmar
IPC分类号： A61K31/445 , A61P9/00 , A61P25/00
摘要： Provided are methods for the treatment of Fabry disease in a patient and/or reducing the risk of reducing the risk of a cerebrovascular (CBV) event in a patient having Fabry disease. Certain methods relate to the treatment of ERT-experienced or ERT-nave Fabry patients. Certain methods comprise administering to the patient about 100 mg to about 150 mg free base equivalent of migalastat for reducing the risk of a CBV event.

20. 发明申请

WO2017173060A1 FORMULATIONS COMPRISING RECOMBINANT ACID ALPHA-GLUCOSIDASE 审中-公开
标题翻译：包含重组酸酸性α-葡糖苷酶的制剂
公开(公告)号：WO2017173060A1
公开(公告)日：2017-10-05
申请号：PCT/US2017/024982
申请日：2017-03-30
申请人： AMICUS THERAPEUTICS, INC.
发明人： CHAR, Hing , TESLER, Sergey , SUNDERLAND, Wendy , DILONÉ, Enrique
IPC分类号： A61K38/47 , C12N9/26 , A61P3/00
摘要： Provided are pharmaceutical formulations comprising a recombinant acid α-glucosidase, wherein the recombinant acid α-glucosidase is expressed in Chinese hamster ovary (CHO) cells and comprises an increased content of N-glycan units bearing one or two mannose-6-phosphate residues when compared to a content of N-glycan units bearing one or two mannose-6-phosphate residues of alglucosidase alfa; at least one buffer selected from the group consisting of a citrate, a phosphate and combinations thereof; and at least one excipient selected from the group consisting of mannitol, polysorbate 80, and combinations thereof, wherein the formulation has a pH of from about 5.0 to about 7.0. Also provided are methods of treating Pompe disease using these pharmaceutical formulations.
摘要翻译：提供了包含重组酸性α-葡萄糖苷酶的药物制剂，其中所述重组酸性α-葡萄糖苷酶在中国仓鼠卵巢（CHO）细胞中表达并且包含增加含量的带有一个或多个氨基酸残基的N-聚糖单元当与含有一个或两个α-葡糖苷酶α-甘露糖-6-磷酸残基的N-聚糖单元的含量相比时，两个甘露糖-6-磷酸残基; 至少一种选自柠檬酸盐，磷酸盐及其组合的缓冲液; 和至少一种选自甘露糖醇，聚山梨醇酯80及其组合的赋形剂，其中所述制剂具有约5.0至约7.0的pH。还提供了使用这些药物制剂治疗庞贝氏病的方法。

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