Preclinical studies of Amicus Therapeutics (706165)’ Plicera™ (isofagomine tartrate, AT2101) revealed that it can increase levels of the target enzyme in cells derived from a patient with the N370S mutation and in mice that express the L444P mutation – the two most common mutations associated with Gaucher's disease.
The most commonly diagnosed lysosomal storage disorder - Gaucher's disease - is caused by inherited genetic mutations in the GBA gene, resulting to deficient activity of the enzyme acid beta-glucosidase or glucocerebrosidase (GCase).
Plicera™ is designed to selectively bind to and stabilize GCase.
The complete clinical data have been presented at the American College of Medical Genetics (ACMG) annual meeting (March 21-25, Nashville, TN).
Read the full press release.
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