A team from the Universities of Liverpool and Cambridge has discovered an effective drug against alkaptonuria, a rare genetic disease. According to the researchers, a drug called nitisinone would stop the progress of the disease.
Alkaptonuria is a genetic disease that causes accumulations of homogentisic acid oxide, which cause damage to the joints and kidneys. If left untreated, it also causes osteoporosis, rupture of tendons and ligaments, cardiac damage to the aortic and mitral valves.
The study involved 39 people with the disease who took 2 mg nitisinone every day for three years. The drug would have stopped the progression of the alkaptonuria and would have regressed some of the symptoms. The results also show a significant reduction in damage from ochronosis, especially at the knees and elbows.
According to Professor Lakshminarayan Ranganath, the results are a hope for the many people suffering from the disease. The positive effects of nitisinone on the accumulation of homogentisic acid oxide were already known. Similarly, previous studies had already shown the positive effects of the drug in prevention. There was no evidence that nitisinone was effective even in people with advanced alkaptonuria.
Duncan Batty, one of the study participants as a patient, wanted to leave his testimony. Man has been suffering from alkaptonuria for almost 30 years. The new treatment helped him avoid the many complications that usually start to manifest at his age.