Granted Patent
B2
US 12,594,268 · App. 17/269,890 · Granted Apr 7, 2026
Methods of treating Fabry disease in patients having a mutation in the GLA gene
Assignee:
Amicus Therapeutics, Inc.
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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.
Claims (9)
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: D33H, G35A, Y88S, T194A, W204G, Y216S, Q250K, and R392T.
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 100 to 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 150 mg of migalastat hydrochloride every other day.
5 . The method of claim 1 , wherein the patient is male.
6 . The method of claim 1 , wherein the patient is female.
7 . The method of claim 1 , wherein the mutation is disclosed in a pharmacological reference table.
8 . The method of claim 7 , wherein the pharmacological reference table is provided in a product label for a migalastat product approved for the treatment of Fabry disease.
9 . The method of claim 1 , wherein the mutation is D33H.
Assignments (4)
SECURITY INTEREST
Recorded Apr 27, 2026
From: BIOMARIN PHARMACEUTICAL INC.; AMICUS THERAPEUTICS, INC.
To: CITIBANK, N.A., AS COLLATERAL AGENT
Reel/Frame 075493/0968 →
RELEASE OF SECURITY INTEREST
Recorded Apr 27, 2026
From: WILMINGTON TRUST, NATIONAL ASSOCIATION
To: AMICUS THERAPEUTICS, INC.
Reel/Frame 075494/0030 →
SECURITY INTEREST
Recorded Oct 6, 2023
From: AMICUS THERAPEUTICS, INC.
To: WILMINGTON TRUST, NATIONAL ASSOCIATION
Reel/Frame 065177/0196 →
ASSIGNMENT OF ASSIGNOR'S INTEREST
Recorded Jun 20, 2022
From: BENJAMIN, ELFRIDA
To: AMICUS THERAPEUTICS, INC.
Reel/Frame 060247/0630 →
Continuity (2)
Provisional Application
62719962
· Aug 20, 2018
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