Last week the DevelopAKUre consortium attended the 9th international workshop on AKU in Copenhagen. It was the one-year anniversary of AKU patient Robert Gregory’s death and we started the day by remembering Robert and all that he achieved for AKU patients. Robert was a massive driving force behind AKU research and it was a really special moment remembering him at our 9th DevelopAKUre workshop. Throughout the day we heard from various speakers, who all specialised in areas that were directly related to AKU. It was fantastic to hear from partners around the world that all had a passion for researching and learning more about the various different mechanisms underlying AKU.
Among the speakers was Dr Anna Milan from Royal Liverpool University Hospital. Anna studies metabolic observations in AKU and she discussed data gathered from AKU patients who attend the national alkaptonuria centre (NAC). Patients who attend the NAC have access to 2mg off-license nitisinone therapy, physiotherapy, pain relief and nutritional support. Data from these patients found that nitisinone significantly reduced urine HGA, with levels reducing by 95% after 6 months of treatment. These results are extremely promising and are very comparable with the patients on 2mg of nitisinone on SONIA1. Dr Kristian Kjaer Peterson talked about understanding the central pain mechanisms of chronic joint pain. Chronic joint pain is very common in AKU and patients often report that this has a big impact on their quality of life. Kristian discussed pain sensitisation as one of the risk factors of AKU and how such findings can be used to develop effective treatment. Shirley Judd from Royal Liverpool University Hospital talked about the nutritional status of AKU patients. Shirley is the dietician at the NAC and has data from pre and post nitisinone patients. As nitisinone increases tyrosine levels, it is important for NAC patients to monitor their protein intake, while maintaining a healthy diet.
Following lunch we heard from various other speakers, including Dr Wendy Introne from the National Institue of Health, USA. Wendy has been researching AKU for 15 years and has a particular interest in cardiac manifestations. Her research revealed that the prevalence of cardiac disease among AKU patients is significantly greater than the general population and her research suggested that HGA plays a role in calcium deposition. We also heard from two students from Liverpool John Moores University who are involved in AKU research . Roisin Lewis’ study measured whether nitisinone influences learning, memory and motor function. Pilot study results should clarify whether nitisinone may affect learning and memory. Leah Taylor studying advanced image analysis is helping understand how AKU develops and how to assess AKU progression. Dr Craig Keenans research looked at pigmentation in AKU mice. Interestingly he found their knees were affected first, where as in humans it tends to be the spine.
We ended the workshop with an open discussion about how DevelopAKUre can inform AKU research. Several great points were made, including the need to define how AKU is assessed and to better understand when to start nitisinone. The discussion ended with a clear emphasis on the ultimate goal: to cure AKU. The 9th international workshop was a great success and it was great to engage with all the partners involved in the DevelopAKUre consortium and hear and learn from so many people passionate about AKU research.
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.
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