Method for the Diagnosis of Gaucher's Disease

Abstract

The present invention is related to an in vitro method for diagnosing Gaucher's disease in a subject comprising a step ofa) detecting a biomarker in a sample from the subject, wherein the biomarker is free lyso-Gb1.

1 - 16 . (canceled) 
     
     
         17 . A method for generating quantitative data for a subject comprising the step of determining at several points in time a level of a biomarker present in a sample from the subject, wherein the biomarker is free lyso-Gb1, and wherein the level of the biomarker is indicative of the severity of the disease in the subject. 
     
     
         18 . The method of  claim 17 , wherein the sample is selected from the group consisting of a blood sample, a serum sample, a plasma sample, a whole blood sample and a sample from whole blood collected on a dry blood filter card. 
     
     
         19 . The method of  claim 17 , wherein the subject has been previously treated or diagnosed for Gaucher's disease. 
     
     
         20 . The method of  claim 17 , wherein the level of the biomarker present in the sample from the subject is determined on a regular basis. 
     
     
         21 . The method of  claim 17 , wherein the level of the biomarker present in the sample from the subject is determined every 3 months or every 6 months. 
     
     
         22 . The method of  claim 17 , wherein free lyso-Gb1 is lyso-Gb1 as present in the subject and not the result of manipulating the sample from the subject. 
     
     
         23 . The method of  claim 17 , wherein the blood sample is a full blood sample or a dry blood filter sample. 
     
     
         24 . The method of  claim 17 , wherein the biomarker is detected by means of mass spectrometry analysis, immunoassay, biochip array, functional nucleic acids and/or a fluorescent derivative of free lyso-Gb1. 
     
     
         25 . The method of  claim 24 , wherein the biomarker is detected by means of mass spectrometry. 
     
     
         26 . The method of  claim 17 , wherein at each of the several points in time a separate sample is taken from the subject and the level of the biomarker is determined in the separate sample. 
     
     
         27 . The method of  claim 17 , wherein lyso-Gb1 is of formula (I)