Our fantastic city of Liverpool hosted the third AKU International Patient Workshop in November 2024.
People living with the ultra-rare disease alkaptonuria (also known as AKU) attended from 19 countries worldwide for this two-day event, organised by The AKU Society. People living with AKU attended to learn more about the disease from experts and researchers, and the tools and strategies which can be used to help manage AKU. It was also an opportunity for the AKU community to network and offer to support to one another, which was wonderful to see.
What is AKU?
AKU is an ultra-rare genetic disease. In every 1 million people, as many as 1 to 4 people may be affected. People affected by this disease cannot break down a certain chemical effectively, leading to their cartilage turning black and joint osteoarthritis, which is painful and results in multiple joint replacements.
AKU Research
Liverpool is a hub for AKU research – the Liverpool AKU Research group is based at the University of Liverpool, which works closely with the National Alkaptonuria Centre (NAC) at the Royal Liverpool Hospital. The NAC provides an annual health check service, and patients receive specialist care from a team of doctors, nurses, and dieticians to name a few.
The workshop
The workshop was a huge success and was the largest international AKU workshop to date with 106 attendees. The workshop covered the following key areas:
- An update from the AKU Society
- The latest findings in AKU research and future plans
- Diet and AKU
- The History of Alkaptonuria
- Patient focussed activities including low protein cooking demonstrations, mindfulness, water-based exercise for AKU, and Pilates for AKU.
Dr Juliette Hughes and Dr Brendan Norman from the University of Liverpool’s Department of Musculoskeletal and Ageing Science gave research updates on the Liverpool AKU Research Group’s key projects and future directions, followed by a Q&A and lots of discussion over coffee and lunch.
Juliette highlighted the groups key research areas and priorities that range from understanding pigmentation in a test tube, studying AKU cartilage, a new area of oxidative stress research, and early-stage pre-clinical work looking at curative therapies. Brendan then highlighted recent exciting research into strategies in reducing tyrosinaemia associated with an AKU drug treatment - that certainly took the interest of the audience!
The workshop was a great success! See below for some wonderful feedback from our patients.
Gave me the opportunity to meet other patients from different countries and share experiences.
It was SO wonderful to meet other AKU patients!!
Rewarding
Talking with the patients provides us with a different perspective. It is both enlightening and informative to listen to and understand how AKU affects their lives and what is important to them. Experiencing this first hand reminds us that our research into this rare disease ultimately aims to benefit this group of people. Having attended UK patient workshops in previous years, it was fantastic to catch up with people living with AKU that we already know, and to meet new people, and to receive heartfelt gratitude and thanks that we are researching their rare condition.
An attendee said:
It means a lot. I don't know how to describe it. But for me it was for the first time I met any other person with AKU and...it wasn't easy to see their problems. But on the other hand, they spread such positive energy, it was awesome. And I know I am not alone in this.