Researchers Identify First Effective Treatment against Ultra-rare Genetic Condition ‘Alkaptonuria’ (AKU)

Feb, 2021 - by CMI

A new study led by the researchers of University of Liverpool have reported to identify first effective treatment for a rare genetic disease called alkaptonuria (AKU). AKU is also known as black bone disease and in the study, researchers investigated on the potential efficiency of the drug ‘nitisinone’ on patients suffering from AKU.

Moreover, researchers also informed that AKU is rare genetic disorder, which affects around one in every 250,000 people and the disease is characterized by homogentisate dioxygenase enzyme deficiency that further leads in buildup of homogentisic acid (HGA). HGA gets deposited as black pigment in tissues, which is called ochronosis, if untreated it can lead to severe damage in spine and joints, leading to recurrent joint surgeries. In some cases patients also develop stones in prostate, kidney, gall bladder, and salivary stones) fractures due to osteoporosis, among others.

In the study, researchers’ involved 139 patients with AKU from UK, France, and Slovakia, in order to inspect the efficacy and safety of nitisinone. Further these patients were randomly divided into two groups, where one group was administered with a daily dose of nitisinone, and other group/control group received no treatment. After the study was completed, researchers observed 99.7% drop in HGA levels among the patients who received daily doses of nitisinone, which indicates that is the nitisinone first confirmed effective treatment for Alkaptonuria.

Professor Ranganath from Liverpool University Hospitals, stated, “We are immensely proud to reach this ground-breaking milestone in finding a treatment for alkaptonuria. The outcome from this research gives hope to those patients diagnosed with this rare condition, and it is a significant step forward that we will now be able to provide an effective clinical treatment.”