AMICUS PRESENTS DATA ON TREATMENT FOR GAUCHER DISEASE

Amicus Therapeutics has announced plans to present the results of preclinical studies of Plicera as an investigational treatment for Gaucher disease, a lysosomal storage disorder.

The data demonstrate the ability of Plicera (isofagomine tartrate, AT2101) to 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 N370S and the L444P are the two most common mutations associated with Gaucher disease, according to the company.

Plicera is designed to selectively bind to and stabilize GCase, the enzyme deficient in Gaucher disease. This deficiency leads to lysosomal accumulation of glucocerebroside inside certain cells, which is believed to cause the various symptoms of Gaucher disease. Plicera facilitates proper trafficking of the enzyme to the lysosomes, the compartments in the cell where it is needed to break down glucocerebroside.

In vitro exposure to Plicera increased transport of GCase to the lysosomes in cells derived from a patient with the N370S mutation. Once in the lysosome, the enzyme was stable and active for more than three days after Plicera was removed. Oral administration of Plicera resulted in a dose-dependent increase of GCase levels in various tissues, including the brain, in mice genetically modified to produce the L444P form of the enzyme. In addition, liver and spleen weights were decreased, as were plasma levels of chitin III and IgG, which are biomarkers related to Gaucher disease.