Claims for Patent: 9,095,584

Summary for Patent: 9,095,584

Title:	Method to predict response to pharmacological chaperone treatment of diseases
Abstract:	The present invention provides methods to determine whether a patient with a lysosomal storage disorder win benefit from treatment with a specific pharmacological chaperone. The present invention exemplifies an in vitro method for determining .alpha.-galactosidase A responsiveness to a pharmacological chaperone such as 1-deoxygalactonojirimycin in a cell line expressing a mutant from of .alpha.-galactosidase A. The invention also provides a method for diagnosing Fabry disease in patients suspected of having Fabry disease.
Inventor(s):	Benjamin; Elfrida (Millstone Township, NJ), Do; Hung V. (New Hope, NJ), Wu; Xiaoyang (Edison, NJ), Flanagan; John (East Windsor, NJ), Wustman; Brandon (San Diego, CA)
Assignee:	AMICUS THERAPEUTICS, INC. (Cranbury, NJ)
Application Number:	14/054,369
Patent Litigation and PTAB cases:	See patent lawsuits and PTAB cases for patent 9,095,584
Patent Claims:	1. A method for identifying candidate patients having Fabry Disease for drug therapy, said method comprising: (a) identifying the mutant .alpha.-galactosidase A expressed in the patient having Fabry Disease, (b) expressing a recombinant form of said mutant .alpha.-galactosidase A in a host cell that does not naturally express the mutant .alpha.-galactosidase A and contacting this host cell with 1-deoxygalactonojirimycin; (c) determining the .alpha.-galactosidase A activity of the mutant .alpha.-galactosidase A in the host cell, and (d) comparing the .alpha.-galactosidase A activity determined in (c) to the .alpha.-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 .alpha.-galactosidase A activity in the host cell contacted with 1-deoxygalactonojirimycin when compared to .alpha.-galactosidase A activity in the host cell not contacted with 1-deoxygalactonojirimycin, or (ii) the .alpha.-galactosidase A activity in the host cell is at least 2% to about 100% activity of a non-mutant .alpha.-galactosidase A. 2. The method of claim 1, wherein the host cells are human embryonic kidney (HEK) cells. 3. The method of claim 1, wherein 1-deoxygalactonojirimycin is in a pharmaceutically acceptable salt form. 4. The method of claim 3, wherein the pharmaceutically acceptable salt form is 1-deoxygalactonojirimycin hydrochloride. 5. The method of claim 1, wherein the patient is female. 6. A method for treating a patient diagnosed with Fabry Disease, said method comprising administering to the patient a therapeutically effective dose of 1-deoxygalactonojirimycin, wherein the patient is identified as being a candidate for treatment with 1-deoxygalactonojirimycin by the method comprising: (a) identifying the mutant .alpha.-galactosidase A expressed in the patient having Fabry Disease, (b) expressing a recombinant form of said mutant .alpha.-galactosidase A in a host cell that does not naturally express the mutant .alpha.-galactosidase A and contacting this host cell with 1-deoxygalactonojirimycin; (c) determining the .alpha.-galactosidase A activity of the mutant .alpha.-galactosidase A in the host cell, (d) comparing the .alpha.-galactosidase A activity determined in (c) to the .alpha.-galactosidase A in a 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 .alpha.-galactosidase A activity in the host cell contacted with 1-deoxygalactonojirimycin when compared to .alpha.-galactosidase A activity in the host cell not contacted with 1-deoxygalactonojirimycin, or (ii) the .alpha.-galactosidase A activity in the host cell is at least 2% to about 100% activity of a non-mutant .alpha.-galactosidase A. 7. The method of claim 6, wherein the host cells are human embryonic kidney (HEK) cells. 8. The method of claim 6, wherein 1-deoxygalactonojirimycin is in a pharmaceutically acceptable salt form. 9. The method of claim 8, wherein the pharmaceutically acceptable salt form is 1-deoxygalactonojirimycin hydrochloride. 10. The method of claim 6, wherein the patient is female.