公开(公告)号：EP2946785B1

公开(公告)日：2018-10-24

申请号：EP15162630.6

申请日：2009-02-12

申请人： Amicus Therapeutics, Inc.

发明人： Benjamin, Elfrida ,  Do, Hung V ,  Wu, Xiaoyang ,  Flanagan, John ,  Wustman, Brandon

IPC分类号： G01N33/68 ,  C12Q1/34 ,  A61K31/445

CPC分类号： A61K31/445 ,  C07K14/00 ,  C12Q1/34 ,  G01N33/6893 ,  G01N2333/47 ,  G01N2333/94 ,  G01N2800/38 ,  G01N2800/52

摘要： A method of compiling a treatment reference table that indicates the responsiveness of one or more specific mutations of ±-Gal A to a specific pharmacological chaperone, the method comprising: analysing in vitro the response to the specific pharmacological chaperone in a host cell that has been transformed with a nucleic acid vector that encodes a first mutant ±-Gal A and compiling a table listing responsive and non-responsive mutant forms of ±-Gal A. The specific pharmacological chaperone is 1-deoxygalactonojirimycin or a pharmaceutically salt or ester and the first cell is HEK-293 MSR cell.

公开(公告)号：EP2946785A1

公开(公告)日：2015-11-25

申请号：EP15162630.6

申请日：2009-02-12

申请人： Amicus Therapeutics, Inc.

发明人： Benjamin, Elfrida ,  Do, Hung V ,  Wu, Xiaoyang ,  Flanagan, John ,  Wustman, Brandon

IPC分类号： A61K38/00 ,  G01N33/68 ,  C07K14/00 ,  A61K31/445 ,  C12Q1/34

CPC分类号： A61K31/445 ,  C07K14/00 ,  C12Q1/34 ,  G01N33/6893 ,  G01N2333/47 ,  G01N2333/94 ,  G01N2800/38 ,  G01N2800/52

摘要： A method of compiling a treatment reference table that indicates the responsiveness of one or more specific mutations of α-Gal A to a specific pharmacological chaperone, the method comprising: analysing in vitro the response to the specific pharmacological chaperone in a host cell that has been transformed with a nucleic acid vector that encodes a first mutant α-Gal A and compiling a table listing responsive and non-responsive mutant forms of α-Gal A. The specific pharmacological chaperone is 1-deoxygalactonojirimycin or a pharmaceutically salt or ester and the first cell is HEK-293 MSR cell.