A new study published in Molecular Genetics and Metabolism, conducted by a Liverpool based research collaboration involving the University of Liverpool, has identified the drug that treats the extremely rare genetic disease alkaptonuria (AKU) which is called nitisinone stops the progress of AKU also known as black bone disease.
AKU is an iconic genetic disorder characterised by deficiency of the enzyme homogentisate dioxygenase, resulting in accumulation of homogentisic acid (HGA). HGA deposits as black pigment in tissues, in a process called ochronosis, leading to progressive damage when untreated. The severe damage includes spine and joints, leading to repeat joint surgeries, with one patient attending the NAC having undergone nine joint replacements. Patients also develop stones (kidney, prostate, gall bladder, salivary), fractures due to osteoporosis, ruptures (tendons, ligament, muscle) as well as heart valve damage (aortic, mitral). In the study, 39 people with AKU were given 2 mg of nitisinone each day for three years.
Newly published results show that the drug stops the disease, by decreasing HGA. Further, nitisinone therapy not only arrested but also partially reversed ochronosis.Results also show that it significantly reduces the damage caused by ochronosis, especially in joints. Patients who took nitisinone showed major health benefits & We knew that nitisinone prevented joint disease in AKU mice. Osteoarthritis in the spine, knees and elbows was much less severe and the risk of heart disease was reduced. Therefore these results bring hope to the more than 30,000 people who suffer from this disease worldwide. AKU patient Duncan Batty, said: “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.”