Clinical Development Innovation in Rare Diseases: Overcoming Barriers to Successful Delivery of A Randomised Clinical Trial in Alkaptonuria
Ranganath LR1,2*, Sireau N3
Abstract
Alkaptonuria (AKU) (OMIM#203500) is a rare inherited disorder due to deficiency of homogentisate dioxygenase
with resultant accumulation of homogentisic acid, occurring with a worldwide frequency of 1 in 100,000 to 250,000 [1].
Keywords
Alkaptonuria, nitisinone, homogentisic acid, SONIA 2, DevelopAKUre