AU2018220047A1 — A method for treatment of fabry disease

USPTO Abstract

Provided are methods 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 a-galactosidase A mutation selected from the group consisting of: L3V, L3P, R4M/Y207S, A13T, A13P, A15T, A15G, F18C, A20D, W24R, W24G, W24C, D33G, N34D, N34T, G35E, G35V, L36S, L36W, A37T, M42K, M421, H46P, E48Q, N53D, N53L, L54F, Q57L, P60T, P60S, F69L, M721, G80D, D83N, G85S, G85N, E87D, L89F, M961, S102L, G104V, L106F, A108T, D109G, R112G, Y123C, H125L, S126G, G128E, 1133M, D136E, N139S, K140T, G144D, F145S, P146S, P146R, Y152H, D165H, D165G, L166G, L167V, C174R, C174G, D175E, L18OW, L180F, Y184N, K185E, p.M187_S188dup, M1871, G195V, R196G, 1198T, V199A, V199G, Y200C, E203V, E203D, Y207H, M208R, P210S, P210L, K213M, P214S, P214L, N215S/D313Y, 1219L, 1219T, R220Q, R220P, Q221P, N224T, H225D, N228S, F229L, 1232T, 1242V, 1242F, 1242T, W245G, N249K, Q250R, Q250H, 1253S, A257G, G258R, G260E, G261S, G261C, M267T, 1270M, G271S/D313Y, G271D, W277G, W277C, T2821, M284V, 1289S, M290L, M2901, A291T, L294S, M296L, M296T, D299E, R301L, 1303F, S304N, S304T, A307T, A309V, L31IV, Q312H, D313Y, D313Y/G41ID, V316I, V316G, I319F, I319T, Q321H, D322N, D322E, P323R, G325R, K326N, Q330R, G334E, F337S, P343L, W349S, A352G, A352V, R356G, R356Q, R356P, E358Q, E358D, G360C, G361E, G361A, P362T, A368T, G375E, T385A, V390M, K391T, G395E, G395A, T412N, E418G and M421V. -~400 (U 200 . 0 30 60 90 120 150 C LCR (mL/min) Adjusted CLCR (m~tmin/l.73M2