In this week’s blog we get in to the festive spirit, and reflect on the great year we have had at the AKU Society.


Yesterday in the office we celebrated the festive season as a team. First of all we swapped our secret santa gifts. Everyone was really happy with their presents, but much to Lesley’s dismay we didn’t manage to keep the identity of the gift givers secret for long!


In the afternoon we joined up with the Findacure team and headed out in to Cambridge for our Christmas meal. We all ate far too much food, and shared some terrible cracker jokes- all in all a very good celebration! And we certainly have much to celebrate! This year has been another successful one, and we would like to remind you of just a few of our big achievements.



One of our biggest projects is the DevelopAKUre clinical trials. Our SONIA 2 clinical trial started in summer this year across our three sites in Europe. This big trial is designed to test the effectiveness of nitisinone as a treatment for AKU. Across all sites, 128 AKU patients have enrolled in the trial, and many have already been back for their second visits. Recruitment is now almost at an end, with the final few patients booked to visit Liverpool in January next year.

More recently a paper has been successfully published about the first stage of our trial, SONIA 1. This trial managed to find the best dose of nitisinone for AKU patients. This dose is currently being used in SONIA 2. You can find out even more about our year of DevelopAKUre developments in the DevelopAKUre Trial Blog.


We have continued to identify patients, both in the UK, and across Europe. The National Alkaptonuria Centre (NAC) celebrated its two year anniversary in June, and at the same time Lesley celebrated two years of working for the AKU Society. Thanks to her hard work, attendance at the NAC has continued to grow. 38 patients have attended the NAC over the past 12 months, and this number is set to increase next year, with some new attendees booked to visit. All patients who attend receive comprehensive tests and assessments to track their disease. They also get nitisinone prescribed off license.

We have also held two fantastic patient workshops this year. The first was in Alexandra Palace, London in June, and the second was held at Goodison Park in Liverpool just last month. Each of the workshops has focused on a different theme, and this year we have explored pain management and mental health in long term conditions.

Hellos and Goodbyes

As well as welcoming new patients, we have welcomed new members of staff. Sorsha has been with us for 9 months now, and has continued to work on our social media and online communities. These communities are growing steadily. Sorsha hopes to hold more events online in the New Year, such as the recent expert forum on research held on PatientsLikeMe.

Eve has been with us for just a month now, but is already fitting well in to the team, and taking on some of our crucial administrative work. She is already helping us to plan our event at the Welsh Assembly in January, which will focus on improving access to specialised services and therapies for Welsh rare disease patients.

There have also been some sad moments this year, with members of staff leaving to move on to other things. As many of you know, Jenni left in February to go travelling, and more recently Hana moved on to a new job in London.

In October we also suffered an even deeper loss, with the death of Robert Gregory. Bob was co-founder of the AKU Society, and a great campaigner for the rights of AKU patients, and research in to the disease. Without him, much of the successful work we do today would never have started. Much of the research we have helped to fund would never have been completed, and the NAC, named after Bob, would never have opened.


We have travelled all over the country, and even Europe, attending conferences and events on rare diseases and patient information this year. From Nick and Duncan speaking at the World Orphan Drug Conference last month, to all of us attending various Rare Disease Day events at the start of the year, we have been raising awareness, gathering knowledge, and making connections all year long.

Our own Eighth Workshop on AKU in Stockholm was a great success this October. We enjoyed a whole day of talks and presentations from AKU experts and researchers from around the world. It really was incredible to see the amount of research being done, not only in the UK, but worldwide.

Looking Forwards

This year we have also been working with the Royal College of General Practitioners to create a professional online learning module for doctors. This will be accessible on the RCGP e-learning platform, and will teach doctors how to identify alkaptonuria in patients, raising awareness, and increasing diagnosis rates. We can’t wait for its completion in the New Year!

As well as this project, we have many others planned for the New Year. You can look forward to a new crowdfunding campaign, a quality of life survey, more online events on our patient communities, and an International Patient Workshop! There will be much more to come alongside our everyday work supporting patients.

We thank everyone who has attended events, spoken at our workshops, raised money for us, or supported us in any way throughout the year. Seasons Greetings and a Happy New Year to you all!