Dr. Nick Sireau is CEO of the AKU Society and Chair of Trustees. After his two sons were diagnosed with AKU, Nick became a trustee in 2003. He served first as CEO from 2010-2015 but returned to his old job in 2017 after a period at AstraZeneca. It is great having somebody with his experience back on board.As a pioneering social entrepreneur, Nick is often asked to speak about the AKU Society and its work. In the last few weeks, Nick has presented at two international conferences – the 

Orphan Drugs and Rare Diseases Global Congress Europe, in London (UK) on 8th-9th March, and the 

Annual International Medical Students Meeting, in Lisbon (Portugal) on 16th-17th March.

‘Rare diseases’ are defined by the EU as those affecting fewer than 1 in 2000 people. Because only a few of the 7,000 diseases identified have approved treatments, they are also known as ‘orphan diseases’. The drugs that treat them are therefore called ‘orphan drugs’. Recently, though, favourable regulation has encouraged many companies to fund orphan drug research. The two-day London congress brought key figures from the drug industry together with regulators and charities to network and discuss issues.The delegates were very excited to hear Nick speak about the AKU Society, which can provide a model for orphan drug research. The AKU Society has put together an international consortium, 

DevelopAKUre, which involves drug companies, universities, clinical sites and patient charities. We have also won a six million euro grant from the European Commission to trial a treatment for AKU, nitisinone. Results from the trial will come through in 2019, and we expect them to be positive.Nick also sat on two panels. The first tackled the challenges which clinical trials might potentially face. He stressed that patients should not be forgotten. Many trials fail either because not enough patients sign up or because they drop out – their expenses should be paid quickly, and their needs considered, during the trial. The second was about Brexit, which we wrote about last time on our blog. If the results of our trial are as planned, we will try to market nitisinone. We therefore need to know whether EU rules will still apply.

The Association for International Medical Students (AIMS) connects medical students all over the world. They invited Nick to speak at their annual meeting in Lisbon, where he told the story of AKU to a hall of 750 students. He mentioned Sir Archibald Garrod, discoverer of AKU in 1902, and how Garrod’s reference to ‘

inborn errors of metabolism’ was the beginning of modern genetic science. Of course, he talked about DevelopAKUre too, which interested the students a lot.Plus, Nick hasn’t finished telling the world about the AKU Society. On May 10th-12th, he will go to Vienna with Ciarán and Reece from our team for the 

European Conference on Rare Diseases and Orphan Products 2018. This event is held by 

EURORDIS, a European association of rare disease charities, every two years. It will be a brilliant chance to promote our work.