Journal of Clinical Medicine Current Research

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

Ranganath LR^1,2*, Sireau N³

¹Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool, L7 8XP
²Department of Musculoskeletal Biology, University of Liverpool, L7 8TX
³The Alkaptonuria Society, Cambridge, UK

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