Gaucher – AT2101
Gaucher disease is an inherited lysosomal storage disorder caused by deficiency of an enzyme called β-glucocerebrosidase (GCase). The role of GCase within the body is to break down a complex fatty substance called glucocerebroside. Reduced or absent levels of GCase activity leads to the accumulation of glucocerebroside in the affected tissues, including the spleen, liver, lungs, bone marrow, and sometimes in the brain. This accumulation of glucocerebroside is believed to cause the various symptoms of Gaucher disease, including an enlarged liver and spleen, skeletal disorders, and, in some instances, lung, kidney, and central nervous system impairment. Individuals with Gaucher disease may also bruise easily and experience pain and fatigue due to anemia and low blood platelets.
For more information on Gaucher disease, click here.
Amicus is utilizing a new technology in the development of treatments for genetic diseases. Pharmacological chaperone technology involves the use of small molecules that selectively bind to and stabilize proteins in cells, leading to improved protein folding and trafficking, and increased activity. In our Gaucher program, we are investigating the use of AT2101 to bind to destabilized glucocerebrosidase (GCase) enzyme and thereby restore its intended biological function of degrading glucocerebroside (GlcCer) substrate in lysosomes. The chemical name for AT2101 is isofagomine (IFG) tartrate and the anticipated trade name for AT2101 is Plicera™.
In 2006, Amicus began human testing of AT2101 and completed an initial Phase 1 study. Additionally, Amicus completed two separate Phase 2 studies with AT2101 for the treatment of Gaucher disease.