Treatment of CNS disorders associated with mutations in genes encoding lysosomal enzymes
US8883813B2 · kind B2 · utility
Assignee
Inventor
Key dates
| Filing date | Jan 7, 2011 |
| Grant date | Nov 11, 2014 |
| Priority date | — |
| Expiry date | Aug 31, 2033 |
Classification
- Technology area (CPC Y)Emerging Cross-Sectional Technologies
- CPC primaryY02A90/10
- WIPO fieldPharmaceuticals
- WIPO sectorChemistry
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.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.