Amicus Therapeutics, Inc.

Xiaoyang Wu

Elfrida Benjamin

John R Flanagan

Hung V Do

Brandon Alan Wustman

Provided are methods of treating a patient diagnosed with Fabry disease and methods of enhancing &#x3b1;-galactosidase A in a patient diagnosed with or suspected of having Fabry disease. Certain methods comprise administering to a patient a therapeutically effective dose of a pharmacological chaperone for &#x3b1;-galactosidase A, wherein the patient has a mutation in the nucleic acid sequence encoding &#x3b1;-galactosidase A. Also described are uses of pharmacological chaperones for the treatment of Fabry disease and compositions for use in the treatment of Fabry disease.

Methods of treating Fabry disease in patients having a mutation in the GLA gene

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 &#x3b1;-galactosidase A responsiveness to a pharmacological chaperone such as 1-deoxygalactonojirimycin in a cell line expressing a mutant from of &#x3b1;-galactosidase A. The invention also provides a method for diagnosing Fabry disease in patients suspected of having Fabry disease.

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 win benefit from treatment with a specific pharmacological chaperone. The present invention exemplifies an in vitro method for determining &#x3b1;-galactosidase A responsiveness to a pharmacological chaperone such as 1-deoxygalactonojirimycin in a cell line expressing a mutant from of &#x3b1;-galactosidase A. The invention also provides a method for diagnosing Fabry disease in patients suspected of having Fabry disease.

Growing community of inventors

Edison, NJ, United States of America

Xiaoyang Wu