Journal of Clinical Medicine Current Research

Journal of Clinical Medicine Current Research

Publisher Home

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

Ranganath LR1,2*, 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


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].

Alkaptonuria, nitisinone, homogentisic acid, SONIA 2, DevelopAKUre
Powered By

Subscribe to our newsletter and stay up to date with the latest news and deals!

Connect via