Methods of treating fabry disease in patients having the G9331A mutation in the GLA gene

Patent metadata

Field	Value
Publication number	US-10076514-B2
Application number	US-201715459149-A
Country	US
Kind code	B2
Filing date	Mar 15, 2017
Priority date	Mar 22, 2016
Publication date	Sep 18, 2018
Grant date	Sep 18, 2018

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 splice site mutation in intron 4 of 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.

First claim

What is claimed is:

1. A method of treating a patient diagnosed with Fabry disease, the method comprising administering to the patient a therapeutically effective dose of 1-deoxygalactonojirimycin or salt thereof, wherein the patient has a mutation in the nucleic acid sequence encoding α-galactosidase, and wherein the mutation is G9331A relative to SEQ ID NO: 1.

2. The method of claim 1 , wherein the dose of 1-deoxygalactonojirimycin or salt thereof is from about 25 mg to about 250 mg.

3. The method of claim 1 , wherein the salt of 1-deoxygalactonojirimycin is 1-deoxygalactonojirimycin hydrochloride.

4. The method of claim 1 , wherein the dose is about 150 mg every other day of 1-deoxygalactonojirimycin hydrochloride or an equivalent dose of 1-deoxygalactonojirimycin or a salt thereof other than the hydrochloride salt.

5. The method of claim 1 , wherein the 1-deoxygalactonojirimycin or salt thereof is administered orally or by injection.

6. A method of treating a human patient diagnosed with Fabry disease, the method comprising orally administering to the patient a therapeutically effective dose of 1-deoxygalactonojirimycin or salt thereof, wherein the patient has a mutation in the nucleic acid sequence encoding α-galactosidase, wherein the mutation is G9331A relative to SEQ ID NO: 1, and wherein the dose is about 150 mg every other day of 1-deoxygalactonojirimycin hydrochloride, or an equivalent dose of 1-deoxygalactonojirimycin or a salt thereof other than the hydrochloride salt.

7. The method of claim 6 , wherein the patient is orally administered about 150 mg of 1-deoxygalactonojirimycin hydrochloride every other day.

Assignees

• Amicus Therapeutics Inc

Inventors

• Benjamin Elfrida

Classifications

• A61P43/00

  Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00 · CPC title

• A61P3/00

  Drugs for disorders of the metabolism (of the blood or the extracellular fluid A61P7/00) · CPC title

• A61K31/445 Primary

  Non condensed piperidines, e.g. piperocaine · CPC title

• A61K9/0053

  Mouth and digestive tract, i.e. intraoral and peroral administration · CPC title

• A61K9/0019

  Injectable compositions; Intramuscular, intravenous, arterial, subcutaneous administration; Compositions to be administered through the skin in an invasive manner (non-active ingredients are additionally classified in A61K47/00) · CPC title