Amicus Therapeutics, Inc.

Elfrida Benjamin

Jeff Castelli

Xiaoyang Wu

John R Flanagan

Hung V Do

Brandon Alan Wustman

Jay Barth

Brandon Wustman

John Flanagan

Provided are methods of treating a patient diagnosed with Fabry disease and methods of enhancing α-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 α-galactosidase A, wherein the patient has a splice site mutation in intron 4 of the nucleic acid sequence encoding α-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 the G9331A mutation in the GLA gene

Provided are methods for treatment of Fabry disease in patients having HEK assay amenable mutations in α-galactosidase A. Certain methods comprise administering migalastat or a salt thereof every other day, such as administering about 150 mg of migalastat hydrochloride every other day.

Methods of treating fabry patients having renal impairment

Methods of treating Fabry patients having renal impairment

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

Provided are methods for treatment of Fabry disease in patients having HEK assay amenable mutations in &#x3b1;-galactosidase A. Certain methods comprise administering migalastat or a salt thereof every other day, such as administering about 150 mg of migalastat hydrochloride every other day.

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Millstone Township, NJ, United States of America

Elfrida Benjamin