Method to predict response to pharmacological chaperone treatment of diseases
AssigneeAmicus Therapeutics, Inc.
InventorsElfrida Benjamin, Hung V. Do, Xiaoyang Wu, John Flanagan, Brandon Wustman
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Abstract
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.
Claims4
A method of treating a patient diagnosed with Fabry disease which comprises administering to the patient a therapeutically effective dose of 1-deoxygalactonorjirimycin, wherein the patient is identified as having a mutant α-galactosidase A, relative to a human α-galactosidase A encoded by a nucleic acid sequence set forth in SEQ ID NO:2, said mutation selected from the group consisting of the α-galactosidase A mutations A121T, A288D, A288P, A292P A348P, A73V, C52R, C94Y, D234E, D244H, D264Y, E338K, E341D, E398K, E48K, G271S, G35R, H225R, I219N, I242N, I270T, I303N, I317T, I354K, L14P, L243F, L300F, L310F, L45R, M267I, M76R, N224S, N298K, N298S, N320I, N34K, P205R, P259L, P265L, P265R, P293A, P293S, P409S, P40L, P40S, Q279R, Q280H, Q280K, Q321E, Q321R, Q327E, R301P, R49G, R49L, R49S, S201Y, S276N, S297C, S345P, V269M, W340R, W47L, and W95S.
Dependencies are inferred from the claim text.