Method to predict response to pharmacological chaperone treatment of diseases
The present invention provides methods to determine whether a patient with a lysosomal storage disorder will benefit from treatment with a specific pharmacological chaperone. The present invention exemplifies an in vitro method for determining α-galactosidase A responsiveness to a pharmacological chaperone such as 1-deoxygalactonojirimycin in a cell line expressing a mutant from of α-galactosidase A. The invention also provides a method for diagnosing Fabry disease in patients suspected of having Fabry disease.
1. A method of treating a patient diagnosed with Pompe disease which comprises administering to the patient a therapeutically effective dose of 1-deoxynojirimycin, wherein the patient expresses a mutant a-glucosidase selected from the group consisting of the a-glucosidase mutations E262K, P266S, P285R, P285S, L291F, L291H, L291P, M318K, G377R, A445P, Y455C, Y455F, P457L, G483R, G483V, M519V, S529V, P545L, G549R, L552P, Y575S, E579K, A610V, H612Q, A644P, and AN470.