Invention Grant
- Patent Title: Treatment of CNS disorders associated with mutations in genes encoding lysosomal enzymes
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Application No.: US14506118Application Date: 2014-10-03
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Publication No.: US09597324B2Publication Date: 2017-03-21
- Inventor: Brandon Alan Wustman
- Applicant: Amicus Therapeutics, Inc.
- Applicant Address: US NJ Cranbury
- Assignee: AMICUS THERAPEUTICS, INC.
- Current Assignee: AMICUS THERAPEUTICS, INC.
- Current Assignee Address: US NJ Cranbury
- Agency: Servilla Whitney LLC
- Main IPC: A61K31/45
- IPC: A61K31/45 ; A61K31/194 ; A61K31/435 ; A61K31/437 ; A61K31/445 ; A61K31/713 ; C12Q1/68 ; G01N33/68 ; C12Q1/34

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.
Public/Granted literature
- US20150133496A1 Treatment of CNS Disorders Associated with Mutations in Genes Encoding Lysosomal Enzymes Public/Granted day:2015-05-14
Information query
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