Where do you turn if your child is diagnosed with Fabry disease? You only know that it is a very rare disease in which the sphingolipids within the cell are not metabolizing properly. What does all that mean? Where can you get help for your child? Amicus Therapeutics, Inc. is one company that is working hard to help such families through the research and development of treatments such little-known diseases.
Located in Cranbury, New Jersey, Amicus Therapeutics, Inc. specializes in rare and orphan diseases. A rare disease is one that affects just a small percentage of the population. However, an orphan disease is one so rare and affects so few people in the population that there is little support and little effort in developing treatments. Amicus Therapeutics, Inc. is making great strides with such diseases, particularly with lysosomal storage disorders in which certain enzymes are missing in the cells that interfere with cell function and can cause its death.
Migalastat is in late-stage development for the treatment of Fabry disease (https://www.dialdish.com/amicus-therapeutics-fabry-disease/). SD-101 is also in late-stage development for the treatment of Epiderolysis Bullosa, a genetic connective tissue disorder. Since many of the lysosomal storage disorders involve missing enzymes within the cell, Amicus Therapeutics, Inc. is working to produce enzyme replacements for the missing ones.
John F. Crowley, CEO, and the entire Amicus Therapeutics, Inc. team are passionate about their work and realize that they must provide quality treatments as quickly as possible. That means they must look at the problems and their solutions with a different viewpoint. That begins with making all company decisions as if the patient were a family member. That calls for innovation, hard work, and a serious commitment to finding solutions as quickly as possible. Crowley and the Amicus Therapeutics, Inc. team are committed to their vision of helping those in need