In recognition of Fabry and Pompe awareness, Amicus is participating in the following:
- United Pompe Foundation’s (UPF) 7thAnnual Late-Onset Pompe Disease Patient Meeting, hosted by the Duke Pompe Disease Clinical and Research Program,
Durham, NC, April 6-7
- Annual Fabulous Fabry Females Meeting,
Emory University, Atlanta, GA, April 22
- New Fabry disease educational websites launched by Amicus:
- FabryFacts.com: a global educational resource providing information and resources about Fabry disease to support healthcare professionals in diagnosing and caring for people with Fabry disease. More information is available at www.fabryfacts.com.
- FabryConnect: an interactive website for people living with Fabry disease to learn, share, and connect with the Fabry community. More information is available at www.fabryfacts.com/fabryconnect.
"In the Amicus spirit of friendship, we join the Fabry and Pompe disease communities in supporting several activities to drive awareness during the month of April,” said
About Fabry Disease
Fabry disease is an inherited lysosomal storage disorder caused by deficiency of an enzyme called alpha-galactosidase A (alpha-Gal A), which is the result of mutations in the GLA gene. The primary biological function of alpha-Gal A is to degrade specific lipids in lysosomes, including globotriaosylceramide (referred to here as GL-3 and also known as Gb3). Lipids that can be degraded by the action of alpha-Gal A are called "substrates" of the enzyme. Reduced or absent levels of alpha-Gal A activity lead to the accumulation of GL-3 in the affected tissues, including the central nervous system, heart, kidneys, and skin. 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. The symptoms can be severe, differ from patient to patient, and begin at an early age. All Fabry disease is progressive and may lead to organ damage regardless of the time of symptom onset.
About Pompe Disease
Pompe disease is an inherited lysosomal storage disorder caused by deficiency of the enzyme acid alpha-glucosidase (GAA). Reduced or absent levels of GAA leads to accumulation of glycogen in cells, which is believed to result in the clinical manifestations of Pompe disease. Pompe disease can be debilitating, and is characterized by severe muscle weakness that worsens over time. Pompe disease ranges from a rapidly fatal infantile form with significant impacts to heart function to a more slowly progressive, late-onset form primarily affecting skeletal muscle. It is estimated that Pompe disease affects approximately 5,000 to 10,000 people worldwide.
About Healing Beyond Disease
Healing Beyond Disease is a cross-functional initiative that was created and implemented by the employees of
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Vice President, Investor Relations & Corporate Communications
Source: Amicus Therapeutics, Inc.