Clinical Development Innovation in Rare Diseases: Overcoming Barriers to Successful Delivery of A Randomised Clinical Trial in Alkaptonuria

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].