Amicus Therapeutics Commences Phase 1 Clinical Trials For AT2220 For Pompe Disease

Amicus Therapeutics, a
biopharmaceutical company developing small molecule, orally-administered
pharmacological chaperones for the treatment of human genetic diseases,
today announced that it has commenced Phase 1 clinical trials for AT2220
for the treatment of Pompe disease, following acceptance of an
investigational new drug application (IND) by the U.S. Food and Drug
Administration (FDA).




Pompe disease, also known as glycogen storage disease type II or acid
maltase deficiency, is a relatively rare lysosomal storage disorder caused
by an inherited mutation in the lysosomal enzyme alpha-glucosidase (GAA).
GAA is normally made in the endoplasmic reticulum where it is properly
folded and subsequently trafficked to the lysosome where it catalyzes the
breakdown of glycogen. In many Pompe patients, a genetic mutation alters
the structure and stability of GAA which results in reduced levels of
enzyme in the lysosome and reduced cellular activity. The deficiency in GAA
activity leads to excessive glycogen accumulation in the cells of various
tissues, especially in heart and skeletal muscle.



AT2220 is a small molecule designed to act as a pharmacological
chaperone that specifically binds, stabilizes, and facilitates the proper
folding and trafficking of GAA to the lysosome, where it can perform its
normal function. AT2220 has been shown to increase GAA activity in cell
lines derived from Pompe patients and in transfected cells expressing
misfolded forms of GAA.



"We are very pleased to see continued progress in the fight against
Pompe disease," says Dr. Sharon Hesterlee, Vice President of Translational
Research at the Muscular Dystrophy Association (MDA). "We look forward to
exploring the opportunities to work with Amicus as this new potential
treatment option for individuals and families with Pompe disease is
evaluated through human clinical trials."



"AT2220 for Pompe disease is the third Amicus product to enter clinical
trials," says Donald Hayden, Amicus interim President and CEO. "This
accomplishment further demonstrates the company's progress in developing
new potential treatments for important diseases using pharmacological
chaperone technology."



The company's lead compound, Amigal(TM) (migalastat hydrochloride), is
in Phase 2 clinical trials for Fabry disease and AT2101 is in Phase 1
clinical trials for the treatment of Gaucher disease.



About Pompe Disease



Pompe disease affects an estimated 5,000-10,000 patients worldwide and
is clinically heterogeneous in the age of onset, the extent of organ
involvement, and the rate of progression. The early onset form of the
disease is the most severe, progresses most rapidly, and is characterized
by musculoskeletal, pulmonary, gastrointestinal, and cardiac symptoms that
usually lead to death from cardio-respiratory failure between 1 and 2 years
of age. The late onset form of the disease begins between childhood and
adulthood and has a slower rate of progression that is characterized by
musculoskeletal and pulmonary symptoms that usually lead to progressive
weakness and respiratory insufficiency.



About Amicus Therapeutics



Amicus Therapeutics is a biopharmaceutical company developing novel,
oral therapeutics known as pharmacological chaperones for the treatment of
a range of human genetic diseases. Pharmacological chaperone technology
involves the use of small molecules to restore or improve biological
activity in cells by selectively binding to misfolded proteins caused by
genetic mutations. Amicus is initially targeting lysosomal storage
disorders, which are severe, chronic genetic diseases with unmet medical
needs. Amicus is currently conducting Phase 2 clinical trials for its lead
compound, Amigal(TM), for Fabry disease, and is conducting Phase 1 clinical
trials of AT2101 for Gaucher disease and AT2220 for Pompe disease.


Amicus Therapeutics

amicustherapeutics/