Recently, Amicus Therapeutics (:Small Biotech Seems To Have The ‘Big Mo’) is working on treatment for Fabry disease. Fabry disease is damage to the peripheral nerve fibers that can effect the GI tract, including the kidneys and the heart. It can be diagnosed early in childhood. Fabry disease is considered a lysomage storage disorder. Before Amicus Therapeutics came along, Fabry disease was a fatal disease. Marlou from the Netherlands suffers from Fabry disease that took the life of her grandmother. Marlou’s sister, mother, and aunt currently suffer from Fabry disease. In the Netherlands, it was wrongly assumed that women can only carry Fabry disease and not get it. Marlou knows this isn’t true. A sufferer herself, she isn’t going to let this disease stop her from enjoying life. She’s being treated with Migalistat.
Amicus is working with genetic diseases by researching how to target mutated proteins. In 2007, Mike from Saddlebrook, New Jersey, had a breathing problem that was misdiagnosed. Finally, in 2016 doctors learned he had Pompe disease that is a form of muscular dystrophy. MD has similar symptoms as Polymiositis, also a muscular disease. If Mike hadn’t been diagnosed with Pompe disease and received treatment, he might have died.
Amicus Therapeutics has a patient advocacy program that not only treats these rare, orphan diseases, it also educates the patient to help in treatment. In fact, Amicus is at the forefront of treating orphan diseases. Amicus is the first pharmeceutical company to market therapy for Epidermolysis, a muscular connective tissue disease. The pharmeceutical company is working on chaperone-Advanced Replacement therapy for the many of the orphan and rare diseases.