Amicus Therapeutics is seeking to find the cure for a variety of rare and orphan diseases that affect people around the globe. Our primary focus at Amicus Therapeutics is in lysosomal-storage disorders, diseases which affect the function of lysosomes in the human cell. Some examples of these types of diseases include Fabry Disease, Epidermolysis Bullosa, and Pompe Disease, all rare disorders we are conducting research on to find treatments for at Amicus Therapeutics.
Our focus is on targeting specifically mutated proteins. For Fabry Disease, a genetic disease that causes a wide range of symptoms across affected patients, we are developing the oral treatment Migalastat. Migalastat stabilizes the defective enzyme within patients who have the disease, which could become a life-changing monotherapy treatment method for up to 50% of people who suffer from Fabry Disease. Currently, there are treatments to manage Fabry Disease, but they are lifelong and incur significant costs.
Another disease that we are focusing on at Amicus Therapeutics is Epidermolysis Bullosa, a genetic disorder that causes skin blistering and lesions (SeekingAlpha). It is chronic, painful and sometimes even fatal. Our topical treatment, SD-101, is currently in a Phase 3 study, and in 2013 the treatment was one of the first to receive a Breakthrough Therapy designation from the FDA.
The final disease that is currently one of our ongoing focuses for study and trial is Pompe Disease. Pompe Disease is an inherited Lysosomal Storage Disorder (LSD) that is caused by a deficiency of an enzyme that results in the accumulation of glycogen in the lysosomes of muscles and other body tissues. This disease has a high mortality due to the complications that arise from the body not being able to properly store glycogen. Our current treatment prospect is ATB200/AT221 which is a recombinant human enzyme that is administered with a chaperone protein and a carbohydrate structure for optimization. This treatment is currently in the active clinical trial phase.
Amicus Therapeutics is changing the world for patients suffering from rare and orphan diseases (https://www.crunchbase.com/organization/amicus-therapeutics). We are committed to finding the cure for a wide range of rare genetic disorders through our innovative research and passion for our work.