Patent ID: 9095584
Filing Date: 2015-08-04
Classification: A61K,A61P,C07K,C12Q,G01N

Abstract:
1. A method for identifying candidate patients having Fabry Disease for drug therapy, said method comprising: (a) identifying the mutant α-galactosidase A expressed in the patient having Fabry Disease, (b) expressing a recombinant form of said mutant α-galactosidase A in a host cell that does not naturally express the mutant α-galactosidase A and contacting this host cell with 1-deoxygalactonojirimycin; (c) determining the α-galactosidase A activity of the mutant α-galactosidase A in the host cell, and (d) comparing the α-galactosidase A activity determined in (c) to the α-galactosidase A in a the host cell when it is not contacted with 1-deoxygalactonojirimycin, and (e) determining that the patient is a candidate for treatment with 1-deoxygalactonojirimycin if: (i) in step (d) there is a 1.3 to 40 fold increase in α-galactosidase A activity in the host cell contacted with 1-deoxygalactonojirimycin when compared to α-galactosidase A activity in the host cell not contacted with 1-deoxygalactonojirimycin, or (ii) the α-galactosidase A activity in the host cell is at least 2% to about 100% activity of a non-mutant α-galactosidase A.