| |
[摘要]：Isofagomine tartrate (AT-2101, HGT-3410, Plicera (TM)) is a new therapeutic candidate for the treatment of Gaucher's disease, the most common of the lysosomal storage syndromes, which is characterized by genetic mutations that result in the production of a defective key enzyme, beta-glucocerebrosidase This leads to accumulation of the fatty substance glucocerebroside in the spleen, liver, kidneys, lungs, brain and bone morrow, which manifests as severe clinical symptoms Isofagomine is designed to act as a pharmacological chaperone by selectively binding to misfolded beta-glucocerebrosidase and helping it to fold correctly, to restore its activity This new agent is currently undergoing phase II clinical development at Amicus Therapeutics in collaboration with Shire Human Genetic Therapies, a business unit of Shire |
|
