MAY we have a little throwback?

by | Jun 24, 2022 | Findacure team, Findacure team|Rare disease world

It may not be a Thursday but we think it’s time to revisit some of the exciting things our Senior Projects Officer, Philippa got up to in May when she attended the AKU Society’s 12th Annual Scientific Conference in Brussels and also the Podcast show in London! Check out some of her highlights of the AKU conference below and tune in later to hear what she got up to in London!

The AKU Society 12th International Scientific conference 

Vrije Universiteit Brussel, Belgium, 14th-15th May 2022: Check out the conference agenda 

It was a real privilege to be invited along to attend this conference in Brussels, and it was a great opportunity to be able to see more of the work of the AKU consortium in action and meet the scientists, academics and patients who work so closely together. I had never attended a patient group conference before, so it also gave me an interesting insight into the organisation of an event of its kind. 

The agenda offered talks and presentations on all aspects of AKU and continuing research into it:  from an overview of the current treatment to access in the UK and beyond; from novel research findings that offer deeper insights into AKU, to presentations of exciting developments in gene therapy.

Session 1: Alkaptonuria in 2022

The first session introduced us to the status of AKU and treatments in 2022. The session really highlighted just how long the journey to get treatments to patients is in rare diseases, even those who have a dedicated consortium backing them. Nick Sireau (CEO, AKU society) outlined some of the challenges the society has faced in securing access to nitisinone for patients worldwide even after EMA approval was secured for the drug in 2020. Showing that a successful clinical trial is often only the first step in securing equitable access for all patients. 

A highlight of this session was learning more about the status of AKU in Turkey and Jordan.

Pelin Teke-Kisa MD, presented the status of AKU in Turkey alongside region specific research findings. The exact incidence of AKU in Turkey is unknown but Pelin highlighted that it is likely to be common due to high incidences of other disorders such as PKU and HT1 and the high rate of consanguineous marriage. Interestingly she highlighted that AKU was actually mapped from a Turkish family in the 1990s yet in 2022 little research had been conducted and most knowledge had been collected through case reports. In response to this lack of research, they designed a cross-sectional, multicenter, descriptive study looking at data regarding demographics, family history, age at diagnosis, consanguineous marriage, the first complaint, system involvement, medications and any past surgeries in a total of 66 individuals with AKU. Amongst the study patients, the youngest age of onset of low back pain and knee pain was just 12 years old. The study then went on to inform a diet study to identify safe levels of blood tyrosine levels through a restricted diet and improve patients quality of life. 


Dr Mohammed Alsbou, the chairman of the Jordanian AKU society outlined the work taking place to identify patients in Jordan and involve them in research; the number of identified patients has grown from just one in 2008 to 100 in 2022. He also highlighted the hard work that has gone into raising awareness of AKU, through HCP and community workshops, conferences, social media and the inclusion of AKU on the medical school curriculum. Mohammed also touched on some of the challenges the society is facing such as the difficulties in following up with identified patients, funding challenges, accessing and providing nitisinone to patients who are not actively involved in research and the cultural challenge of phobia of genetic disease due to misunderstanding and lack of genetic literacy. 

In both talks, the speakers highlighted how the numbers of diagnosed patients are only predicted to grow in their respective countries and across the Middle east as inborn errors of metabolism have a higher incidence in countries and cultures where consanguineous marriage is more common. This, coupled with cultural phobia of genetic disease is likely set to be an ongoing challenge for the AKU community.

Session 2: Gene therapy in AKU 

That afternoon the session focused upon developments in gene therapy in AKU. The session was introduced with an interesting presentation from Professor Simon Waddington from UCL who outlined some of the key concepts of how gene therapy works and used examples of it in Haemophilia B and inborn errors of metabolism. We then heard exciting news from Sanofi who have successfully created a gene therapy for AKU which they have tested on a mouse model, before hearing a panel discussion on some of the potential challenges for gene therapy in AKU. One of which was the existence and relative ease of access to nitisinone for many patients, meaning access to gene therapy may be harder to secure.

Special Lecture: ‘Nitisinone and mosquito control’- Álvaro Acosta-Serrano, from the Liverpool School of Tropical Medicines.

I thoroughly enjoyed the special lecture in session two which focused upon the potential use of nitisinone to kill blood feeding insects such as the tsetse fly and mosquitos and could play a key role in eliminating tropical diseases. The drug could be a promising, environment-friendly alternative to current insecticides that targets the insect tyrosine metabolism pathway and could help in the prevention of fatal diseases such as Tsetse transmit African trypanosomiasis and malaria. Álvaro’s team have been collaborating with patients with AKU who attend the NAC to test the way in which their blood can successfully eliminate these diseases because of the nitisinone present. It is hoped that using nitisinone in this way will help to drive down the price of nitisinone and contribute to efforts to achieve universal access to nitisinone to AKU patients around the world, whilst repurposing the drug to help alleviate the effects of some of the world’s deadliest and most widespread diseases. The talk really shone a light on the potential that drug repurposing has not only for rare diseases but disease in general and showed just how much we have left to learn about AKU and other drug and disease mechanisms. 

Session 3: Combatting tyrosinaemia and other AKU research

The final session which took place on the second day, discussed the issues AKU and hereditary tyrosinaemia type-1 (HT-1) patients face in controlling their tyrosine levels due to nitisinone treatment. We heard about the importance of managing and following a protein-controlled diet to manage this. 

We also had an interesting presentation from Dr Beth Barnby, president of the Tyrosinemia Society, who gave an informative update on research into tyrosinaemia in relation to HT-1. She showed us some videos of lab mice with and without HT-1 and showed the devastating effects the illness had on their congnitive function and behavior, something which I had never been privy to before. 

Some fun and games too!

We didn’t spend all our time in Brussels in a lecture theatre though! I also had some time on Friday and Sunday to take in the sights of the city and was able to visit the charming arcades and chocolate shops in the city centre as well as the Grand Place, a pop art museum and the Royal Palace of Brussels. I of course also managed to hit up some thrift shops and grab some bargains and also sample some Belgian food and drink, although the beer at the bar delirium turned out to be a little strong for my taste! A real highlight of the trip was our group excursion for dinner on Saturday night where we had plenty of wine and good conversation- even if half the group were tuning into the football at the dinner table! 

All in all, it was a great trip and I really enjoyed being able to meet new people and learn new things again. It served as a real life reminder of how impactful the work of the rare community and patient groups is in making real change. The conference showed that you just never know what is around the corner when it comes to learning new things about rare disease. An innovation to move the community and our entire understanding of genetics forwards could be just around the corner.