Methods of treating fabry disease in patients having the G9331A mutation in the GLA gene
US10076514B2 · kind B2 · utility
51Cited by
1References
7Claims
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Key dates
| Filing date | Mar 15, 2017 |
| Grant date | Sep 18, 2018 |
| Priority date | — |
| Expiry date | Mar 15, 2037 |
Classification
- Technology area (CPC A)Human Necessities
- CPC primaryA61P3/00
- WIPO fieldPharmaceuticals
- WIPO sectorChemistry
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.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.