The DevelopAKUre programme was a series of major international clinical trials, run by a consortium of 12 European partners. It aimed to study a drug, called nitisinone, and assess its effectiveness in treating AKU.

The DevelopAKUre clinical trials finished in 2019 and successfully showed that nitisinone lowered the amount of homogentisic acid (HGA), the acid that causes the damage in AKU, by 99% along with a statistically significant slow down in the clinical symptoms of the disease, which means for the first time we have shown that we can slow the progress of AKU. In 2020, the European Medicines Agency (EMA) and the European Commission (EC) officially extended the use of nitisinone in treating AKU. This means nitisinone is now registered as a treatment for AKU across the European Union (EU) and the UK.

DevelopAKUre was consortium made up of 12 partners from across the EU. Click here to find out more about their roles and location.

SONIA 1 (Suitability of Nitisinone In Alkaptonuria 1)

SONIA 1 was designed to ascertain the correct, and most effective, amount of nitisinone patients should take to reduce levels of HGA – this is called dosage. SONIA 1 finished In June 2014 and the main scientific paper was published in December 2014. It found that levels of HGA are reduced by nitisinone and that this is dependent on dosage levels.

SONIA 2 (Suitability of Nitisinone In Alkaptonuria 2)

SONIA 2 was designed to test the effectiveness and safety of nitisinone and whether it slowed down the damage HGA does to the body of AKU patients. SONIA 2 recruited 138 patients over three trial sites in Liverpool, UK; Paris, France and Piešťany, Slovakia.

The trial took place over four years and required patients to make up to 6 trips to their nearest trial site. The patients were split into two groups of 70 with one group taking nitisinone and one not taking nitisinone. This was important as it allowed us to show the positive effect of nitisinone. SONIA 2 finished in 2019 and showed that nitisinone reduced the amount of HGA in the body by 98.85%. You can read the results here.

SONIA 2 clinical sites

SOFIA (Subclinical Ochronotic Features in Alkaptonuria)

SOFIA was designed to compare AKU patients from different age groups to study when symptoms start to present. The study was designed to enable us to understand at what age AKU patients need to start taking nitisinone to best combat the damaging effects of the disease.

SOFIA tested patients for ochronosis, the process where cartilage is discoloured black by the effects of AKU. This is thought to be the earliest sign of the more damaging symptoms of AKU. SOFIA recruited 30 patients from a range of 7 age groups from 16 to 50+. The study required one visit to the Royal Liverpool University Hospital. SOFIA highlighted ochronosis in patients as young as 16 and underlined the need for a study into children under 16. 

DevelopAKUre was funded by the European Commission through its 7th Framework Programme.

Now that the EC has agreed the marketing authorization for nitisinone, each member state of the EU will then need to decide how much they will pay for nitisinone and how this will be covered by socialised health care or insurance. This process is typically undertaken by each country’s HTA (health technology assessment) agency. These are often non-governmental organisations that help the health department of each member state’s government decide on what drugs they should give to people with diseases and how much they should cost. An example of an HTA is the National Institute for Health and Care Excellence (NICE) in the UK.

For a full list of HTA agencies in Europe, please head to here.

This process may take some time. However, the AKU Society, along with our sister societies, will assist, where possible, for AKU patients in each country to get access to the drug. We hope this process will be as quick and painless as possible.