A new drug to treat the ultra-rare genetic disease alkaptonuria (AKU) has been given the go-ahead following research in Liverpool.
Also known as Black Bone Disease, AKU turns patients’ bones and cartilage black, causing severe disability as life progresses. This is due to a missing enzyme, which causes the body to accumulate homogentisic acid at 2,000 times the normal rate.
The new drug - nitisinone - has been approved for use by the European Commission after work in Liverpool at both Liverpool John Moores and the University of Liverpool.
Clinical research by the DevelopAKUre consortium showed nitisinone reduces the production of homogentisic acid by 99.7%.
"This step forward is a coup for a large international team including several LJMU researchers,” said LJMU’s Professor Jonathan Jarvis, co-applicant on the successful EU clinical trial whose finding that the drug was effective in a mouse model of Alkaptonuria paved the way for the human trial.
Professor Ted Lock was also involved in the initial development of the drug as a life-saving treatment for tyrosinaemia. Other members of the LJMU team included Dr Hazel Sutherland, PhD student Roisin Lewis, Dr Craig Keenan, and Professor Gabor Barton, who welcomed AKU patients to the his Biomechanics gait laboratory to study their mobility.
"We believe the approval of nitisinone for AKU will bring hope to others who are seeking treatments for their diseases."
Dr Nick Sireau, Chair of the AKU Society patient group, said: “It’s been a long journey, but we’re delighted a treatment has at last been approved for this rare but devastating disease. This means patients will no longer have to suffer what were, until now, the inevitable consequences of this illness.”
Prof Lakshminarayan Ranganath, the AKU clinical expert at the Royal Liverpool University Hospital and leader of DevelopAKUre, said: “AKU was identified as the first inherited metabolic disease in 1901. Since then hundreds of other inherited metabolic diseases have been identified, yet few have treatments. We believe the approval of nitisinone for AKU will bring hope to others who are seeking treatments for their diseases.”
Prof Jim Gallagher, the AKU scientific expert from the University of Liverpool’s Institute of Life Course and Medical Science, said: “Collaboration has been key to our success. Never before have I participated in a group of people so focused on working closely together to bring a treatment from the laboratory to the clinic. It’s been hugely rewarding for everyone, especially the patients.”