# US 12,599,595 B2 · Dosing regimens for the treatment of lysosomal storage diseases using pharmacological chaperones

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- Number: US 12,599,595 B2
- Document ID: US12599595B2
- Status: Granted
- Kind: B2
- Application number: 18/199,125
- Filed: 2023-05-18
- Published: 2023-11-16
- Granted: 2026-04-14
- Earliest claimed: 2007-04-26
- Assignees: Amicus Therapeutics, Inc.
- Applicants: Amicus Therapeutics, Inc.
- Inventors: Jeff Castelli; David J. Lockhart
- Web page: https://patentgrep.com/patent/US12599595B2

## CPC

- A61K 31/445: Non condensed piperidines, e.g. piperocaine
- A61K 31/45: having oxo groups directly attached to the heterocyclic ring, e.g. cycloheximide
- A61K 31/7008: Compounds having an amino group directly attached to a carbon atom of the saccharide radical, e.g. D-galactosamine, ranimustine
- A61K: PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES (devices or methods specially adapted for bringing pharmaceutical products into particular physical or administering forms A61J3/00; chemical aspects of, or use of materials for deodorisation of air, for disinfection or sterilisation, or for bandages, dressings, absorbent pads or surgical articles A61L; soap compositions C11D)

## Abstract

The present invention provides dosing regimens for administering pharmacological chaperones to a subject in need thereof. The dosing regimens can be used to treat disorders caused by improper protein misfolding, such as lysosomal storage disorders.

## Claims

### Claim 1

A method of reducing globotriaosylceramide (GL-3) inclusion volume per podocyte in a patient having Fabry disease, the method comprising:
measuring the GL-3 inclusion volume per podocyte in the patient at baseline prior to administering to the patient a formulation comprising an effective amount of 1-deoxygalactonojirimycin or salt thereof;
administering to the patient a formulation comprising an effective amount of 1-deoxygalactonojirimycin or salt thereof every other day for at least 6 months, wherein the effective amount is about 123 mg free base equivalent (FBE); and
measuring the GL-3 inclusion volume per podocyte in the patient after 6 months of administering the formulation comprising an effective amount of 1-deoxygalactonojirimycin or salt thereof, wherein the GL-3 inclusion volume per podocyte is reduced after 6 months of administering the formulation comprising an effective amount of 1-deoxygalactonojirimycin or salt thereof.

### Claim 2 (depends on 1)

The method of claim 1, wherein the 1-deoxygalactonojirimycin or salt thereof enhances α-galactosidase A activity.

### Claim 3 (depends on 1)

The method of claim 1, wherein the patient is administered about 123 mg of 1-deoxygalactonojirimycin every other day.

### Claim 4 (depends on 1)

The method of claim 1, wherein the patient is administered about 150 mg of migalastat hydrochloride every other day.

### Claim 5 (depends on 1)

The method of claim 1, wherein the formulation comprises an oral dosage form.

### Claim 6 (depends on 5)

The method of claim 5, wherein the oral dosage form comprises a tablet, a capsule or a solution.

### Claim 7 (depends on 1)

The method of claim 1, further comprising reducing podocyte volume.