Methods Of Treating Fabry Disease In Patients Having A Mutation In The GLA Gene
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.
1 . 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: A29D, R38S, N53Y, Y88C, V124G, I133F, A143V, Y152N, F159C, A160D, D165N, F169I, L180V, D182G, R196T, W209R, A257T, P259S, G271A, S276T, M290V, A291S, I303T, I303V, L310V, G360A, G360R, G375A, L394P, G411S, and N419D.
2 . The method of claim 1 , wherein the migalastat or salt thereof is administered to the patient every other day.
3 . The method of claim 1 , wherein the patient is administered about 100 to about 150 mg free base equivalent of the migalastat or salt thereof every other day.
4 . The method of claim 1 , wherein the patient is administered about 123 mg free base equivalent of the migalastat or salt thereof every other day.
5 . The method of claim 1 , wherein the patient is administered about 123 mg of migalastat free base every other day.
6 . The method of claim 1 , wherein the patient is administered about 150 mg of migalastat hydrochloride every other day.
7 . The method of claim 1 , wherein the migalastat or salt thereof is administered orally.
8 . The method of claim 1 , wherein the migalastat or salt thereof is administered by injection.
9 . The method of claim 1 , wherein the migalastat or salt thereof enhances α-galactosidase A activity.
10 . The method of claim 1 , wherein the patient is male.
11 . The method of claim 1 , wherein the patient is female.
12 - 42 . (canceled)
43 . The method of claim 1 , wherein the mutation is disclosed in a pharmacological reference table.
44 . The method of claim 43 , wherein the pharmacological reference table is provided in a product label for a migalastat product approved for the treatment of Fabry disease.
45 . The method of claim 43 , wherein the pharmacological reference table is provided in a product label for GALAFOLD®.
46 . The method of claim 43 , wherein the pharmacological reference table is provided at a website.
47 . The method of claim 46 , wherein the website is one or more of www.galafoldamenabilitytable.com or www.fabrygenevariantsearch.com.
48 . A method of enhancing α-galactosidase A in a patient diagnosed with or suspected of having Fabry disease, 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: A29D, R38S, N53Y, Y88C, V124G, I133F, A143V, Y152N, F159C, A160D, D165N, F169I, L180V, D182G, R196T, W209R, A257T, P259S, G271A, S276T, M290V, A291S, I303T, I303V, L310V, G360A, G360R, G375A, L394P, G411S, and N419D.
49 . The method of claim 48 , wherein the migalastat or salt thereof is administered to the patient every other day.
50 . The method of claim 48 , wherein the patient is administered about 100 to about 150 mg free base equivalent of the migalastat or salt thereof every other day.
51 . The method of claim 48 , wherein the patient is administered about 123 mg free base equivalent of the migalastat or salt thereof every other day.
52 - 93 . (canceled)