Research from Liverpool reveals drug that can treat rare genetic disease

Recently published research from a team from Liverpool has identified the drug that treats an extremely rare genetic disease — alkaptonuria (AKU).

The observational study, published in Molecular Genetics and Metabolism, was performed at the NHS-funded Robert Gregory National Alkaptonuria Centre (NAC), based at the Royal Liverpool University Hospital, in collaboration with the University of Liverpool and Cambridge charity the AKU Society.

Involving 39 patients with AKU — an iconic genetic disorder characterised by deficiency of the enzyme homogentisate dioxygenase, resulting in accumulation of homogentisic acid (HGA) — the study revealed that a drug called nitisinone can halt disease progression.

After being given 2 mg of nitisinone each day for three years, the researchers found that disease progression was stopped as it decreased HGA. Additionally, they found that the therapy also partially reversed ochronosis — a process where black pigment is deposited by HGA in tissues, which causes progressive damage when untreated.

Furthermore, the researchers also found that nitisinone significantly reduced the damage caused by ochronosis, especially in joints and those patients taking it experienced major health benefits. Osteoarthritis in the spine, knees and elbows was much less severe and the risk of heart disease was reduced.

“These results bring hope to the more than 30,000 people who suffer from this disease worldwide,” stated Professor Lakshminarayan Ranganath, the NAC director. “We knew already from earlier research that nitisinone substantially reduces HGA. We also knew that nitisinone prevented joint disease in AKU mice through research at the University of Liverpool. However, to show the benefit of nitisinone in people with AKU, for the very first time, the NAC team had to come up with innovative and pioneering approaches to study outcomes.

“I am very proud of everyone who helped us to get here.”

AKU patient Duncan Batty, added: “As a patient who has suffered from the degenerative effects of AKU for nearly 30 years it is fantastic news that an effective treatment has been identified. I am at the age when heart complications should start, but thanks to nitisinone there is no evidence of any issues.”