Rare and Orphan diseases are the forgotten ones of the medical world. This is due to the fact that as the name shows, they are rare. When a disease is considered to be rare it will rarely receive attention from pharmaceutical companies who are producing cures. This is how a disease becomes an orphan disease. However, there are exceptions to this rule, exceptions such as Amicus Therapeutics. Amicus has been concentrating on developing cures and treatments for rare and orphan diseases grouped as Lysosomal storage disorders. The main ones Amicus is working are Fabry disease, Epidermolysis Bullosa, Pompe disease, and few other rare diseases.
Amicus Therapeutics conducts its scientific research in a deceptively simple way. The chemist is working on two ways to stabilize proteins. The first method is to go the pharmacological chaperone route and the second way is a hybrid method combining a chaperone with enzyme replacement therapy. However, Amicus is in late stage development of a treatment for Fabry disease. What makes this treatment special is that it is done according to a genetic diagnosis. This way, the treatment will not be a “one size fits all” approach to treating individual patients.
Another product that is also in advanced development is SD-101, which will be used to treat those who suffer from Epidermolysis Bullosa (EB), which is a genetic issue that affects the connective tissue (https://yourbeautycraze.com/amicus-therapeutics-introduces-galafold-fabry-disease-patients/). Amicus Therapeutics does not produce any of its medication in-house. It is all contracted out to third party candidates. The company recently opened another office in San Diego, California.
What makes Amicus Therapeutics an outstanding member of the medical community is their attitude towards their patients. They work closely with individual patients and their care givers, physicians, nurses, and patient organizations to ensure that everybody gets what they need and are reading from the same page. This way, Amicus is able to use feedback to help out in the research and development process. John F. Crowley has been the CEO of Amicus Therapeutics since 2005 (Glassdoor).