Bile acid biomarkers for Niemann-Pick diseases, methods and uses therefor
US10983112B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Apr 28, 2017 |
| Grant date | Apr 20, 2021 |
| Priority date | — |
| Expiry date | Jul 13, 2037 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG01N2800/38
- WIPO fieldMeasurement
- WIPO sectorInstruments
Abstract
Methods for identification and quantification of bile acids are disclosed. Bile acids in plasma, serum and/or blood such as a dried blood spot are used to identify subjects with a Niemann-Pick disease. The methods include measuring levels of a bile acid, such as 3β,5α,6β-trihydroxycholanic acid, N-(3β,5α,6β-trihydroxy-cholan-24-oyl)glycine, N-(3β,5α,6β-trihydroxy-cholan-24-oyl)taurine, or a combination thereof. Detection of bile acids involve mass spectroscopy and/or a combination of mass spectroscopy and liquid chromatography such as a LC-MS/MS assay. The methods can be used with sphingomyelinase assays to detect, diagnose and differentiate between Niemann-Pick A/B and Niemann-Pick C (NPC) disease.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.