Pompe – AT2220

Pompe disease is an inherited lysosomal storage disorder caused by deficiency of an enzyme called acid α-glucosidase (Gaa). The role of Gaa within the body is to break down glycogen, the form of sugar stored in living cells for use as energy.  Reduced or absent levels of Gaa activity leads to the accumulation of glycogen in the affected tissues, including the heart, skeletal muscles (including those involved with breathing), liver, and nervous system. This accumulation of Gaa is believed to cause progressive muscle weakness and respiratory insufficiency in individuals with Pompe disease. Pompe disease can occur in infants, toddlers, or adults, and the prognosis varies according to the time of onset and severity of symptoms.

For more information on Pompe 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 Pompe program, we are investigating the use of AT2220 to bind to destabilized GAA enzyme (acid alpha glucosidase or acid α-glucosidase) and thereby restore its intended biological function of degrading glycogen substrate in lysosomes. The chemical name for AT2220 is 1-deoxynojirimycin hydrochloride.

AT2220 currently is being studied in people who have Pompe disease.  The study is being conducted in medical centers located throughout the United States, Canada, France, Germany, the Netherlands, and the United Kingdom.

Enrollment criteria, site locations, and specifics regarding the Phase 2 Pompe study may be found by visiting www.clinicaltrials.gov and searching the keyword “Amicus” or by clicking here.