公开(公告)号：EP1682504A4

公开(公告)日：2008-10-22

申请号：EP04810772

申请日：2004-11-12

申请人： AMICUS THERAPEUTICS INC

发明人： FAN JIAN-QIANG ,  ZHU XIAOXIANG ,  SHETH KAMLESH

IPC分类号： C07D211/40 ,  A61K20060101 ,  A61K31/437 ,  A61K31/445 ,  A61K31/454 ,  A61K31/4745 ,  A61K31/50 ,  A61K31/501 ,  A61K48/00 ,  A61P43/00 ,  C07D471/02 ,  C07D471/04

CPC分类号： C07D487/04

公开(公告)号：EP1888068A2

公开(公告)日：2008-02-20

申请号：EP06784763.2

申请日：2006-06-08

申请人： Amicus Therapeutics, Inc.

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.

公开(公告)号：EP1885366A2

公开(公告)日：2008-02-13

申请号：EP06772163.9

申请日：2006-06-05

申请人： Amicus Therapeutics, Inc.

发明人： FAN, Jian-qiang ,  VANLENZANO, Ken ,  LEE, Gary ,  BOUVIER, Michel Universite de Montreal

IPC分类号： A61K31/497 ,  A61K31/505

CPC分类号： A61K31/495 ,  A61K9/0053 ,  A61K31/497 ,  A61K31/505 ,  C07K14/723

摘要： The invention relates to methods of enhancing normal melanocortin-4 receptor (MC4R) activity, and to enhancing activity of an MC4R having a mutation which affects protein folding and/or processing of the MC4R. The invention provides a method of treating an individual having a condition in which increased activity of an MC4R at the cell surface would be beneficial, for example in obesity, by administering an effective amount of a pharmacological chaperone for the MC4R. The invention provides MC4R pharmacological chaperones which enhance the activity of MC4R. The invention further provides a method of screening to identify pharmacological chaperones which enhance folding of an MC4R in the endoplasmic reticulum (ER), in order to enhance the activity of the MC4R at the cell surface.

公开(公告)号：EP4062916B1

公开(公告)日：2024-10-09

申请号：EP22165669.7

申请日：2018-05-30

IPC分类号： A61K31/445 ,  A61P13/12

CPC分类号： A61K31/445 ,  A61P13/12 ,  C12Y302/01022

公开(公告)号：EP4397364A2

公开(公告)日：2024-07-10

申请号：EP24161179.7

申请日：2013-05-02

申请人： Amicus Therapeutics, Inc.

发明人： Greene, Douglas Stuart ,  Valenzano, Kenneth Joseph

IPC分类号： A61P3/00

CPC分类号： A61K31/445 ,  A61K38/47 ,  A61P11/00 ,  A61P21/00 ,  A61P3/00 ,  A61P3/08 ,  A61P43/00 ,  A61P9/00

摘要： The presently disclosed subject matter provides a dosing regimen and administration schedule for the use of 1-deoxynojirimycin and enzyme replacement therapy for the treatment of Pompe disease. The presently disclosed subject matter further provides a dosing regimen and administration schedule for the use of 1-deoxynojirimycin hydrochloride and alglucosidase alfa for the treatment of Pompe disease.

公开(公告)号：EP4374918A2

公开(公告)日：2024-05-29

申请号：EP24164126.5

申请日：2018-05-30

申请人： Amicus Therapeutics, Inc.

发明人： Castelli, Jeff

IPC分类号： A61P13/12

CPC分类号： A61K31/445 ,  A61P13/12 ,  C12Y302/01022

摘要： Provided are methods for treatment of Fabry disease in a patient having renal impairment and/or elevated proteinuria. Certain methods comprise administering to the patient about 100 to about 150 mg free base equivalent of migalastat or salt thereof at a frequency of once every other day. Certain methods also provide for the stabilization of renal function, reducing left ventricular mass index, reducing plasma globotriaosylsphingosine and/or increasing α-galactosidase A activity in the patient.

公开(公告)号：EP4356911A1

公开(公告)日：2024-04-24

申请号：EP23219947.1

申请日：2017-07-19

申请人： Amicus Therapeutics, Inc.

发明人： Castelli, Jeff

IPC分类号： A61K31/445 ,  A61P9/00 ,  A61P3/00 ,  A61P13/12

CPC分类号： A61K31/445 ,  A61K31/45 ,  A61K31/7008 ,  A61P13/12 ,  A61P3/00 ,  A61P39/02 ,  A61P43/00 ,  A61P9/00

摘要： Provided are dosing regimens for the treatment of Fabry disease in a patient. Certain methods relate to the treatment of ERT-experienced or ERT-naive Fabry patients. Certain methods comprise administering to the patient about 123 mg free base equivalent of migalastat for improving left ventricular mass and/or improving podocyte globotriaosylceramide.

公开(公告)号：EP3201320B1

公开(公告)日：2023-10-11

申请号：EP15845664.0

申请日：2015-09-30

发明人： GOTSCHALL, Russell ,  DO, Hung

IPC分类号： C12N5/07 ,  C12N5/10 ,  A61K48/00 ,  C12N9/40 ,  C12N15/09

公开(公告)号：EP3957320B1

公开(公告)日：2023-08-23

申请号：EP21174249.9

申请日：2016-12-29

发明人： DO, Hung V. ,  KHANNA, Richie ,  GOTSCHALL, Russell

IPC分类号： A61K38/47 ,  A61K31/445

公开(公告)号：EP3675853B1

公开(公告)日：2022-09-07

申请号：EP18766482.6

申请日：2018-08-28

发明人： CASTELLI, Jeff ,  BARTH, Jay ,  SKUBAN, Nina

IPC分类号： A61K31/445 ,  A61P9/04 ,  A61P43/00