ABSTRACT
Each rare disease only affects a few people. The AKU Society has identified 81 UK patients with alkaptonuria, and nearly 700 patients worldwide. By understanding the early studies into the drug, this chapter shows how the AKU's strategy as a patient group has been directed at building the knowledge, resources and most importantly the people needed to finally launch an international phase III clinical study of nitisinone use in AKU patients. We now know that AKU is a genetic disease and so inherited from parents. A mutation in the third chromosome leaves patients with a non-functional homogentisate 1,2 dioxygenase (HGD) enzyme. homogentisic acid (HGA) is a black pigment. HGA binds to cartilage, turning it black and brittle. In their late 20s, patients feel this as severe joint and back pain—every movement that should be softened by smooth cartilage is instead jarred against abnormal cartilage four times harder than plastic.
