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biomarker for therapeutic evaluation in type 2 and 3 Gaucher disease

Technology Number: 


Principal Investigator

Anthony H.


Biological Chemistry

Patent Status: 


Neuropathic Gaucher’s (nGD), is a rare but very severe manifestation of the disease, with a varying degree of involvement of the central nervous system, in addition to systemic symptoms. As of today, there is no cure for these severe conditions.
The search for such cure is tremendously hindered by the unmet need for a reliable biochemical biomarker for nGD.
The present invention identifies the glycoprotein non-metastatic B (GPNMB) as a potential powerful nGD biomarker for use in early diagnosis, determination of disease severity, as well as a straight forward readout in clinical and preclinical experiments.


Diagnosis and drug development for neuropathic GD


Straight forward diagnostic tool – based on standard biochemical assays
Relatively simple clinical procedure – samples are collected from CSF and not brain
High sensitivity – for the diagnosis of disease severity
Compatible with preclinical experiments

Technology's Essence

Prof. Futerman and his team preformed a quantitative global proteomic analysis (using LC-MS/MS) of cerebrospinal fluid (CSF) samples from four patients with Type 3 GD, to identify mis-regulated proteins, compared with healthy subject.
Glycoprotein non-metastatic B (GPNMB), a protein that was previously associated with several lysosomal storage disorders, exhibited very high levels (a 42-fold increase) in the CSF of type 3 GD patients.  Two peptides were identified from GPNMB, both located in the non-cytosolic domain, suggesting that GPNMB is cleaved and secreted into the CSF from the brain. LC-MS/MS results were validated by ELISA and by western blot analysis in CSF and in human brain samples.
Several proof of principle experiments were conducted in order to prove the validity of using GPNMB as a biomarker for monitoring disease state and treatments efficacy in neuropathic GD in patients and mouse models:
GPNMB levels were shown to be correlated with the severity of type 3 Gaucher’s disease patients, as measured by lower IQ score and lower score in Purdue Pegboard test, assessing eye-hand coordination. In addition, using conduritol b epoxide (CBE)-injection based mouse model that simulate different severities and recovery periods, it was shown that GPNMB levels rapidly rise or decline to reliably reflect progress/remission states of the diseases.

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