Lancet Study shows first known effective treatment for rare
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A new study published in The Lancet, led by a Liverpool based research collaboration, has identified the first effective treatment for a rare genetic condition known as alkaptonuria (AKU).

The aim of the study was to investigate the potential effectiveness of the drug nitisinone in patients diagnosed with AKU also known as black bone disease.

AKU is rare genetic disorder that affects approximately one in every 250,000 people characterized 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).

The AKU Society, the first patient group set up to support those with the disease, has been heavily involved in the trial, leading on recruitment and logistics as well as letting the patients know the progress of the four-year study.

To investigate the efficacy and safety of nitisinone 139 patients with AKU were recruited from three countries, UK, France and Slovakia. The patients were randomly assigned to one of two groups; with one group being administered a daily dose of nitisinone, and a control group that would receive no treatment.

Upon completion of the study, patients in the group receiving daily doses of the drug showed a 99.7% reduction in their levels of HGA. This study marks a watershed moment in the treatment of this rare condition as it is the first proven effective clinical treatment for Alkaptonuria.

Researchers said: "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. The work carried out within the SONIA 2 clinical trial is great example of how important research such as this is, and the power it has to make a substantial and life changing impact for our patients."

Source: https://www.thelancet.com/journals/landia/article/PIIS2213-8587(20)30228-X/fulltext
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