AKU background information
Alkaptonuria, also known as AKU or black bone disease, is an extremely rare genetic condition. AKU stops patients’ bodies from breaking down a chemical called homogentisic acid (HGA) which the body naturally produces during the digestion of food. Due to this, HGA builds up in the body and, over time, leads to black and brittle bones and cartilage, and early onset osteoarthritis. This results in severe pain and impaired mobility.
Patients are advised to take the drug nitisinone off-label. ‘Off-label’ means that the drug was originally developed for another condition and has been repurposed to treat AKU. Nitisinone reduces the build-up of HGA but instead causes an increase in a chemical called tyrosine. Dietary management is necessary to control these tyrosine levels.
Patients can access all the information and care they need at the National AKU Centre. This includes access to and close monitoring of the drug nitisinone for English and Scottish patients.
How it started
In 2003 the AKU Society was founded in the UK by a patient, Robert Gregory, and his doctor Professor Ranganath. They started to look for other patients in the UK via hospitals and an identification campaign through GPs. In the meantime, they managed to get funding from foundations and contacted other hospitals in Europe realising that there were many AKU patients in need of an organisation to support them. This led to the creation of other AKU Society’s in Europe.
Communication and funding
The AKU Society set up a website which is by far the most effective way to communicate a sizeable quantity of information to as large an audience as possible. Their Facebook page is another key outlet for the AKU Society to communicate with patients, and they also have a Twitter account which is a more official platform to reach companies and official bodies. Online forums funded by a Big Lottery Fund grant play a big part in allowing patients to discuss issues out of the public eye.
With 13 partners across Europe, they managed to secure a European Commission grant of 6 million euros through the FP7 framework. This went towards financing a series of clinical trials into the drug nitisinone.
The switch to treatment and diet
Nutritional management was a new challenge for AKU patients, as they only have to control their protein intake while taking the drug nitisinone. The drug halts the production of HGA, which stops the development of disease symptoms. However, without the production of HGA, another chemical, tyrosine, can accumulate in the body. This can cause new health complications, such as dryness, itching, and crystals forming in the eyes, which can lead to blindness.
Consequently, those on the medication are advised to have a controlled protein diet, to prevent the accumulation of tyrosine. Patients are regularly monitored for their tyrosine level and, if it is found to be too high, may no longer be able to receive nitisinone unless levels drop.
This presented a considerable challenge to patients who had not needed to consider diet previously. They had to learn a new regime and understand its importance. It was crucial for the AKU Society to educate their patient community and motivate them to stick to the diet for their health. The Shirley Judd, a specialist dietician involved in the National Alkaptonuria Centre at the Royal Liverpool Hospital, was a critical source of information and support to achieve this.
Creating a recipe book
The most important dietary support that the AKU society offers to its members is a recipe book. It helps inform patients about the macro- and micro-nutrient content (proteins, carbohydrates, and fats) of their meals, helping them track how much protein they are consuming. This was done in conjunction with a dietitian, who assisted in the production of the book, and whose meticulous scrutiny ensured the legitimacy of what patients were suggested to do.
The book counts dozens of recipes, each with its own image, description of contents, and cooking instructions so that patients can understand how to make it and what they are consuming. The pages are wipe-clean and are organised in a ring-binder, making it easy to add new recipe cards when they are produced in the future.