CPC A61K 31/445 (2013.01) [A61P 13/12 (2018.01); A61K 9/48 (2013.01)] | 97 Claims |
1. A method of treating Fabry disease, the method comprising administering migalastat to a patient in need thereof, wherein the patient has an α-galactosidase A protein comprising a HEK assay amenable mutation selected from the group consisting of: R4M/Y207S, A15T, A15G, F18C, W24G, N34D, G35V, M42I, E48Q, N53D, P60S, F69L, M721, G85S, G85N, G104V, L106F, A108T, D109G, R112G, G144D, L167V, L180W, G195V, R196G, V199A, E203D, P210S, P210L, P214S, R220P, Q221P, F229L, I242T, W245G, Q250H, p.V254del, G260E, G261S, G271S/D313Y, W277C, D299E, S304T, D313Y/G411D, I319F, F337S, P343L, G361A, P362T, K391T, G395E and p.T400_S401dup.
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