Address: Advice Hub, 66 Devonshire Road, Cambridge, CB1 2BL
Telephone Number: 01223 322897
Registered Charity Number: 1101052
Prevalence of AKU: 1:500,000
What is Alkaptonuria (AKU)?
Alkaptonuria (AKU) is a painful, crippling and degenerative genetic disorder, also known as ‘Black Bone Disease’. It is caused by a missing enzyme which means patients cannot break down a toxic chemical called homogentisic acid (HGA). As a result, HGA accumulates in their bodies at 2,000 times the normal rate, and eats away at their bones, cartilage and tissue, turning them black and brittle. The acid also causes black pigmentation in patients’ eyes and ears and turns urine, ear-wax and sweat a blue-black colour.
AKU results in severe, early-onset osteoarthritis and can destroy every major joint in a patient’s body, including the spine. One patient describes it being so painful that ‘it feels as if your bones are wrapped in barbed wire’.
The condition can also affect the vital organs and lead to life-threatening issues, such as heart disease, kidney and bladder conditions and breathing problems due to pigmentation and damage to the ribs and spine.
There is no cure or licensed treatment for AKU.
What support is available?
AKU is a national charity with strong international links.
The AKU Society began in 2004, when Nick Sireau’s two sons were diagnosed with AKU and he found no information, support or treatments available. He refused to accept that nothing could be done to help his children, so he made the difficult decision to give up his job and joined with AKU patient, Robert Gregory and biochemist Dr. L. Ranganath, to develop the AKU Society.
We are now an innovative patient-led support group, run by patients, relatives, scientists and doctors, to empower all those affected by AKU; helping them understand and manage their condition, building a strong and supportive AKU community and ultimately finding a cure for one of the rarest conditions in the world.
In the last few years we have grown from strength to strength. In 2012, thanks to our tireless campaigning, we secured funding from the Department of Health to open the worlds first, and only, National Alkaptonuria Centre (NAC) at the Royal Liverpool University Hospital. Here AKU clinics provide expert monitoring, care and advice to patients in the UK. At the same time, Nitisinone was pinpointed as a promising drug for treating AKU, and we secured funding from the European Commission to begin a major European clinical trial, called DevelopAKUre.
We have a dedicated Patient Support Manager who offers one-to-one patient home visits and accompanies patients to the NAC. We also provide accurate, up-to-date information on AKU via our workshops, website, social media and Online Patient Communities.
We are the only charity in the UK dedicated to AKU patients, and we have helped establish sister societies in 12 countries worldwide, who collectively help over 1000 patients. The world’s AKU community looks to us for the latest research, information and treatment advice.
Breaking Down Barriers Project Overview
AKU aim to “revolutionise the support we offer to AKU patients from ethnic minority communities”. The project will be delivered in four distinct stages:
- Produce information – translate their existing leaflets and patient handbook into the eight most common languages spoken within UK ethnic minority communities
- Survey AKU patients – to find out what information they would like and to explore effective ways to raise awareness within different communities
- Face to face meetings – to develop the organisations understanding of the needs of different families by asking them directly
- AKU Champions – identifying patients to work alongside AKU and represent their community to spread awareness and offer additional support
Year 2 Project
The Breaking Down Barriers Advisory Group met in November 2017 to review the grant monitoring forms for year 1 projects and to consider the action plans submitted for year 2. Following successful completion of year 1, they were pleased to approve the plan submitted by The AKU Society to carry out the following work:
- Continue developing relationships with their members and offer support at their Centre of Excellence
- Create a short video about AKU that may potentially be viewed in GP practices throughout the UK and can also be used on their website to help raise awareness.
- Trial BrowseAloud which is a screen reader that will read out pages of a website. This is useful for people who find it difficult to read text and it also offers translation for people who speak English as an additional language.
Year 3 project
Our third-year funding will be used to offer genetic testing for the families of NAC patients at a higher risk of carrying the AKU gene.
We identified the need for this project during discussions with AKU patients who attend the NAC. Several of them asked about genetic testing for partners and family members, especially those from Asian or other ethnic groups who have married from within their community or had arranged marriages.
Some patients who attend the NAC, have had 2 or more family members diagnosed with AKU. Some families have even had a positive diagnosis of AKU in most of their siblings.
It is therefore understandable why some of these patients have asked if their partners can be tested to identify if they carry the AKU gene as this may increase the chances of them having children with AKU.
At the time of testing, we plan to offer education on the genetics of AKU and how it is inherited. The service we plan to offer is about ensuring those who are carriers or even found to have AKU are better informed about genetics and being a carrier and, for those with AKU, they are better prepared for living with AKU, aware of treatment options and how to access the NAC.
In the long term, we hope to obtain funding to widen the availability of such testing to the extended families of all NAC patients.