Amicus Therapeutics (Nasdaq:FOLD) is a biotechnology company at the forefront of advanced therapies to treat a range of devastating rare and orphan diseases. The Company has a development pipeline of novel, first-inclass treatments for a range of human genetic diseases.
LYSOSOMAL STORAGE DISORDERS
Many genetic disorders can be caused by mutations that make proteins less stable or disrupt the normal three-dimensional folding of proteins. These genetic disorders include lysosomal storage disorders (LSDs).
LSDs are caused by mutations that alter a patient’s endogenous enzymes, which may lead to a decrease in protein stability and even misfolding of enzymes. This may cause the deficient enzyme’s substrate to accumulate in the body.
Fabry disease is an inherited LSD caused by deficiency of an enzyme called α-galactosidase A (α-Gal A). The function of α-Gal A is to degrade glycosphingolipids, or sugary-fat material, in lysosomes, including globotriaosylceramide (GL-3, also known as Gb3). Progressive accumulation of GL-3 is believed to lead to the morbidity and mortality of Fabry disease, including pain, kidney failure, heart disease, and stroke.
Pompe disease is an inherited LSD caused by deficiency of an enzyme called acid α-glucosidase (GAA). Reduced or absent levels of GAA lead to the accumulation of the substrate glycogen in the lysosomes of various cells within the body. Progressive accumulation of glycogen is believed to lead to the morbidity and mortality associated with Pompe disease, including muscle weakness and respiratory insufficiency.
EB is a rare genetic disorder that manifests as blistering or erosion of the skin and, in some cases, the epithelial lining of other organs. EB is chronic, debilitating, and can potentially be disfiguring and fatal. There is currently no approved treatment for EB; however, Amicus is committed to addressing this significant unmet need.