The DevelopAKUre programme is a series of major international clinical trials, run by a consortium of 12 European partners. It aims to study a potential new drug, called nitisinone, and assess its potential effectiveness in treating the rare disease, alkaptonuria (AKU).
What are AKU and nitisinone?
AKU was the first genetic disease ever identified and was discovered by Sir Archibald Garrod in 1901. Patients experience a severe osteoarthritis which turns bones black and destroys their joints. More than 100 years later, AKU still has no cure, nor treatment.
Treatment may exist in a drug called nitisinone. Nitisinone is not licensed for AKU but has been used by many patients off-label. Those patients seem to experience benefit, but the only way to be certain a drug works is through clinical research. The US National Institute of Health began research into nitisinone for the treatment of AKU in the early 2000s. They found that nitisinone works biochemically, by reducing the acid which causes AKU, but due to an imprecise endpoint and too few patients, their trial, unfortunately, ended without conclusive proof. At that point, further research into a potentially useful medicine seemed unlikely. This led to a difficult situation, where the patients that had taken part in the US trial could no longer access a drug that they felt had improved their symptoms.
Building the consortium
The AKU Society was founded in 2003 with the intention to launch a second clinical trial, but with better indicators of disease; so that nitisinone could be fairly assessed. Our first step was to understand the disease better, so we funded research at the University of Liverpool. This showed that the drug worked in models of AKU. We then funded clinical research at the Royal Liverpool University Hospital, developing more sensitive methods to assess AKU symptoms and allowing for better monitoring of the effects of new treatments such as nitisinone.
With this information, the AKU Society, University of Liverpool and Royal Liverpool University Hospital could start planning a clinical trial. Clinical research is essential for providing reliable evidence on the effects of new treatments. Therefore, we founded the DevelopAKUre clinical trial consortium including Sobi (the pharmaceutical company with the license for nitisinone), two other clinical sites outside of the UK (National Institute of Rheumatic Disease in Slovakia, and Hopital Necker and Institute Necker in France), a CRO (PSR Group), several labs (Nordic Bioscience, University of Siena and the Biomedical Research Centre in Slovakia), as well as the French patient group, ALCAP.
Together, the DevelopAKUre consortium applied for funding the European Commission’s Seventh Framework Programme (FP7) in order to develop and run the clinical trials. The funding secured for this programme includes €6 million from the European Commission, with an additional €4 million in co-financing (for in-kind costs such as the drug supply).
DevelopAKUre is planned to conclude in 2019.Depending on whether the results show evidence for the effectiveness of nitisinone, the consortium will use them to apply to the European Medicines Agency for marketing authorisation and approval for nitisinone as a treatment for AKU. Therefore, we aim to contribute to the International Rare Diseases Research Consortium goal of200 new therapies for rare diseases by 2020.AKU Research Journey
DevelopAKUre is a series of major international clinical trials, run by a consortium of 12 European partners. It aims to study a potential new drug, called nitisinone, and assess its potential effectiveness in treating the rare disease, alkaptonuria (AKU).
DevelopAKUre is co-funded by a grant from the European Commission. This website is run by a UK patient group, the AKU Society. Learn more about AKU on the AKU Society's What is AKU page.
In this week's blog, we talk to Brendan Norman, a PhD student at the University Of Liverpool, ab.. ...more