The Challenges of Alkaptonuria, a Rare Disease – written by AKU Society

Come and meet Nick and hear about his incredible journey at ON Helix, One Nucleus’ Translational Research Conference on 14 July 2015.

In this blog the AKU Society tells us more about their work.

Alkaptonuria (AKU) or Black Bone Disease is a rare genetic disease that causes a build-up of acid in the body. This acid damages bones and tissue, turning them black and brittle, causing severe joint damage and an increased risk of heart disease.

Nicolas Sireau, Chairman, AKU Society

Nicolas Sireau, Chairman, AKU Society

Nicolas Sireau (pictured above) is the Chairman of the AKU Society and has been involved with our society ever since his sons were diagnosed with AKU. Nick became a trustee in 2003 when the AKU Society was set up, and in 2005 he became Chairman. Three years ago, he gave up his job in order to dedicate himself full time to managing the Society, helping to raise awareness, provide support and ultimately work towards finding a cure for AKU.

We are a patient-led group, established to unite those affected by AKU through a network of support, as well as facilitating the formation of scientific partnerships that help to understand and eventually treat this debilitating disease. The Society firmly believes that the best way to help patients is to cure them and this can only be achieved by recruiting scientists and clinicians who are dedicated to the cause.

We also work closely with the Royal Liverpool University Hospital – presently the leading centre of excellence for AKU in the UK. We have built strong partnerships with several universities and hospital trusts. This has helped expand the scientific knowledge of AKU and could one day lead to a cure for the disease.

Our work is expanding across the world, having helped set up many sister arms of the AKU Society in different countries, including ALCAP in France, AIM AKU in Italy, DSAKU in Germany, AKU Society in the Netherlands and AKU Society in North America and Canada. Plans to expand into Slovakia, Jordan and Belgium are also under way.

The patient experience

Jess is the parent of a four-year-old boy with AKU. She first realised something was wrong when she noticed dark staining in her son, Daniel’s nappies. After taking Daniel to several doctors and doing some research on the internet, she eventually had him diagnosed with AKU. Although he is now healthy, Jess is worried about how the disease could impact Daniel’s life in the future.




She said, “As a parent it’s really difficult knowing that our little boy has this disease. He’s a very happy and healthy four year old, but invisible damage may have already started.”

The symptoms of AKU become more serious with time. In children, noticeable symptoms are limited to discoloured urine and staining in sweat and earwax. However, as they get older, the damage caused by the disease sets in and patients can develop crippling back and joint pain. Many older patients need multiple operations to replace fused joints and over time, they become severely disabled.



Ann is 55 years old and was only diagnosed with AKU when she was 49. Overall, she has had six joint replacements and open heart surgery as a result of the disease. She also has severe joint pain, which makes it difficult for her to climb the stairs and means she needs a stick to walk. Her disability has resulted in her having to give up work.

Treatment and Research

Fortunately, a promising drug called Nitisinone is currently being tested in an international clinical trial at three European sites. This drug prevents the build-up of damaging acid in the body and could prevent the symptoms of AKU, if prescribed early enough.

However, we do not yet completely understand the progression of the disease and more research is needed to determine the optimum age at which to start treatment. If given too early, the drug could cause unwanted side effects in developing children. Given too late, the damage caused by the disease may have already started. Therefore, more money is needed in order to carry out research on this and other rare diseases.

Ann is passionate that other patients should not suffer as she has. She said, “It really is crucial that we find out what age to start treating patients with Nitisinone so they do not develop any of these debilitating symptoms.”

For Daniel this research could be crucial. Jess said, “We would be delighted to know he was being given a drug at the right time that would prevent the onset of such a horrible disease.”


In order, for this research to have the greatest benefit, we need to ensure all patients are diagnosed as early as possible so they can receive treatment at the correct age. The Society has developed an online learning module with the Royal College of General Practitioners (RCGP) to train health professionals how to identify and diagnose the disease. We hope this module will raise awareness and improve diagnosis rates. Although aimed at GPs, the module is open to all.

ON Helix

Nick Sireau, AKU Society Chairman, will present a keynote address at ON Helix, One Nucleus’ Translational Research Conference taking place on 14 July 2015 at the Wellcome Trust Conference Centre, Hinxton.

He will explain the journey from the discovery of Nitisinone through to clinical development and the promise this offers those affected by AKU. This research programme is jointly run by the AKU Society and the Royal Liverpool University Hospital.

ON Helix, One Nucleus' Translational Research Conference

ON Helix, One Nucleus’ Translational Research Conference

Written by: the AKU Society


About onenucleus

The One Nucleus blog is written by individuals and is not necessarily a reflection of the views held by One Nucleus.
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