Rare and orphaned diseases can sometimes fall off the radar of public thought, with by its very definition less than 200,000 people or about 1 in 1,500 have to suffer from these diseases for them to be classified as such in the United States. This leads to less funding being invested in researching cures and treatment, and a smaller pool from which to pull in research patients (http://www.marketwatch.com/investing/stock/fold). Amicus Therapeutics, however, believes that investing and creating treatments for these rare and orphaned diseases is not only vital to those suffering from them but to understanding and treating common diseases as well.
Amicus Therapeutics largely uses the Chaperone-Advanced Replacement Therapy or CHART platform. Concentrating on enzyme replacement therapies or ERTs, Amicus Therapeutics has become a biotechnology leader in research and development for rare diseases in the pharmaceutical industry. Currently, the lead candidate is migalastat (trade name Galafold), a chaperone treatment platform for Fabry Disease that hopes to stabilize the mutant gene that causes the condition. Additionally, Amicus Therapeutics has treatment research ongoing for Pompe disease, and other Lysosomal Storage Disorders (LSDs). Pompe disease treatment is being led with biologics program, ATB200/AT2221, which is making great steps in treating the genetic disorder.
Amicus Therapeutics is devoted to patient advocacy as well, supporting and empowering those with these disorders and their families to ease the difficulties they face. Learning by listening to the patients earnestly. Using this input to use in the design of clinical trials for therapies and research allows better advances in the drug development and new therapy processes (Dialdish). Feedback on what patients actually are facing daily provides the opportunity to get advice on the both the needs and what improves their quality of life. This helps in not only treatment options but for Amicus Therapeutics to educate, support, and advocate on behalf of patients in the public space as well.