IP Library Granted Patent US 7,964,617
Granted Patent B2
US 7,964,617 · App. 11/449,528 · Granted Jun 21, 2011

Methods for treating parkinsons disease and parkinsonism

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Quick Facts
Patent No.
US 7,964,617
App. No.
11/449,528
Granted
Jun 21, 2011
Kind
B2
Abstract

Described is a method for treating an individual having a neurological disorder with an associated mutation or mutations in a gene encoding a lysosomal enzyme. Specifically, the individual is administered a specific pharmacological chaperone for the lysosomal enzyme which increases trafficking of the protein from the ER to the lysosome in neural cells, with or without concomitantly increasing enzyme activity in neural cells. Restoration of trafficking relieves cell stress and other toxicities associated with accumulation of mutant proteins. Restoration of enzyme activity relieves substrate accumulation and pathologies associated with lipid accumulation. In a specific embodiment, the neurological disorder is Parkinson's disease or parkinsonism which is associated with mutations in glucocerebrosidase.

Claims (6)

1. A method for treating Parkinson's disease or parkinsonism in an individual, which method comprises administering to the individual an effective amount of isofagomine.

2. The method of claim 1 , wherein Parkinson's disease is early-onset Parkinson's disease.

3. The method of claim 1 , wherein the individual is heterozygous or homozygous for a N370S mutation in a gene encoding glucocerebrosidase.

4. The method of claim 1 , wherein the individual is heterozygous for a R496H mutation in a gene encoding glucocerebrosidase.

5. The method of claim 1 , wherein the individual is heterozygous or homozygous for a L444P mutation in a gene encoding glucocerebrosidase.

6. The method of claim 1 , wherein the individual has a mutation in a gene encoding β-glucocerebrosidase.

Assignments (1)
SECURITY INTEREST Recorded Apr 27, 2026
From: BIOMARIN PHARMACEUTICAL INC.; AMICUS THERAPEUTICS, INC.
To: CITIBANK, N.A., AS COLLATERAL AGENT
Reel/Frame 075493/0968 →