Methods of treating Fabry disease in patients having a mutation in the GLA gene
AssigneeAmicus Therapeutics, Inc.
InventorElfrida Benjamin
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Abstract
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 mutation in 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.
Claims9
A method for treatment of Fabry disease in a human patient in need thereof, the method comprising administering to the patient a therapeutically effective dose of migalastat or a salt thereof, wherein the patient has an α-galactosidase A mutation selected from the group consisting of:
- D33H, G35A, Y88S, T194A, W204G, Y216S, Q250K, and R392T.
Dependencies are inferred from the claim text.