Delivery Solutions to Improve Fabry Patient Quality of Life

Student: John Kenney, 2016-2017

Sponsor: Amicus Therapeutics, Princeton, NJ

According to Amicus, Fabry affects about 5,000 to 10,000 people worldwide. As the disease is caused by an X-linked genetic mutation, the Fabry population is predominantly male. The genetic mutation leads to a mis-folding of the alpha-galactosidase A protein, which is involved in the breakdown molecules that are key to proper blood vessel, neuro-tissue, and organ tissue function. The inability to properly regulate the concentration of these molecules leads to heart, skin, and kidney complications. These complications burden Fabry patients, decreasing their quality of life, and inhibiting them from living an active lifestyle. Likewise, there is only one available treatment in the United States, which requires patients to spend four to five hours in the clinic every two weeks. The current treatment paradigm forces Fabry patients to waste a total of four to five days per year in the clinic. Due to the small volume of patients, there is not a compelling effort from large pharmaceutical companies to invest the development of not only a more effective, but also more convenient treatment for Fabry patients. Amicus is developing a small-molecule that can be used in combination with currently available treatments, increasing the uptake of drug in 30% to 50% of the Fabry population. With increased uptake, patients can be administered lower dosages of drug. This gives way for Amicus to deliver its therapy with an at-home infusion device, very possibly like an insulin pump. In doing so, Amicus would not only differentiate itself from competitors, but improve the treatment quality and convenience for a significant amount of Fabry patients.