How Amicus Therapeutics Treats Pompe Disease

Amicus Therapeutics is a pharmacology company based out of Cranbury, New Jersey. Amicus Therapeutics focuses on rare genetic disorders that impact the quality of patient’s lives. The focus of Amicus Therapeutics is on lysosomal disorders (ReleaseFact). Fabry disease is linked to the X-chromosome and can be quite devastating. Sufferers go through full body pain, as well as gastric problems. Amicus Therapeutics strives for enhancing the lives of patients by working on the latest research on Fabry disease, Pompe disease, and more. People who work for Amicus Therapeutics are often the sorts of people who think outside the box. They value learning from their mistakes. They hire employees who think differently.


Amicus Therapeutics has many clinical programs for patients. The company believes in honesty and is run by the equal partnership in the business. Their company values teamwork, as well as the ability to look to the future for a vision of what the partners want the company to become. Currently, there are three clinical studies on Fabry disease, Epidermylosis Bullosa (EB), and Pompe Disease, the main focus of Amicus Therapeutics. EB causes disfigurement, as well as fragile blistering of the skin. Pompe disease is caused by a deficiency in acid alpha-glucosidase (GAA). The science behind potential new treatments is that mutated proteins are targeted ( Intravenous infusion of the enzyme a person with Fabry lacks is in part a gene activated enzyme, which delivers a therapeutic protein into the blood. Treatment consists of an infusion bag. For Pompe disease, a new drug was discovered. Pompe disease is a build up of glycogen or glucose.


Infants with Pompe have poor muscle tone, muscle weakness, enlargened liver, and heart defects. Pompe can happen in early childhood, adolescence or adulthood, which means that 1 in 40,000 people in the United States carry the disorder or have symptoms. Pompe disorder affects the muscles that help a patient breath which can cause dysfunction in adolescence or adulthood. Problems breathing then cause respiratory failure. Amicus Therapeutics is determined to provide new treatments for all these illnesses.