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Endocrine/metabolic disease

Gaucher's disease

Glucocerebrosidase (GBA; GCase)

In vitro studies suggest the natural compound celastrol could help treat Gaucher's disease, which is caused by loss-of-function mutations in GCase. In fibroblasts from patients with Gaucher's disease with the two most common GCase mutations, celastrol increased both GCase activity and its levels compared with no treatment. The compound functioned by inhibiting heat shock protein 90 (Hsp90)-mediated degradation of GCase. In cultured cells, celastrol increased expression of chaperone proteins that promote stability of mutant GCase compared with vehicle. Next steps could include testing celastrol in animal models of Gaucher's disease.
Shire plc markets Vpriv velaglucerase alfa, a recombinant GCase, to treat Gaucher's disease.
Sanofi markets Cerezyme imiglucerase and Ceredase, a recombinant GCase and alglucerase, to treat the disease.
Pfizer Inc. markets Protalix BioTherapeutics Inc.'s Elelyso alfataliglicerase, a recombinant GCase, for Gaucher's disease.
Several companies have compounds targeting the GCase system in Phase III or earlier development for Gaucher's disease.

SciBX 7(3); doi:10.1038/scibx.2014.87
Published online Jan. 23, 2014

Patent and licensing status unavailable

Yang, C. et al. Proc. Natl. Acad. Sci. USA; published online Dec. 18, 2013;
Contact: Zhengping Zhuang, National Institutes of Health, Bethesda, Md.
Contact: Roscoe O. Brady,
same affiliation as above
Contact: Chunzhang Yang,
same affiliation as above