Working on a treatment for alkaptonuria
Alkaptonuria is a rare heritable disease caused by a defective enzyme and leading to severe arthritis. Nitisinone could be a viable treatment, but clinical trials have not been conducted, so the drug is not commercially available. The EU-funded DEVELOPAKURE (Clinical development of nitisinone for alkaptonuria) consortium is completing the clinical trials required to get nitisinone to market. In alkaptonuria patients, the homogentisic acid dioxygenase enzyme does not break down homogentistic acid, leading to its accumulating in the joints. Over time, this causes the severe arthritis seen in alkaptonuria patients. Thus far, DEVELOPAKURE has obtained all the regulatory approvals required to conduct clinical trials.. We have needed to gather patients from across Europe, working with national patient groups, and bringing them to three main clinical centres in Liverpool, Paris and Piestany. The first clinical trials have been completed with 40 alkaptonuria patients. Researchers collected large amounts of physiological data for further study, and this is being used to carry out the next phase of clinical trials. If successful, DEVELOPAKURE will bring nitisinone to market within the next five years. The project is also providing a better understanding of how alkaptonuria affects those who suffer with the disease.
Keywords
Alkaptonuria, nitisinone, genetic disease, arthritis, homogentisic acid
