Last week we held a research and science extravaganza event on PatientsLikeMe. All week we had research experts online to answer patient questions, resulting in some great discussions. In today’s blog we take a look at those discussions and share some information about AKU research.

Scientific research can often be technical and difficult to understand. However, research is all about finding breakthroughs for the benefit of patients. This is the reason we think it is important to share research results with patients in a way that is easy to understand.

Having our experts online resulted in some great conversations about research, and helped many patients understand their disease a little better. Here are just a few examples of the topics discussed.

Osteoarthritis Breakthrough

Last week AKU research was on the front page of the Daily Express, and was the feature of many other news stories online. This research was conducted by some of our partners at the University of Liverpool, and resulted in the discovery of a new mechanism of joint destruction in osteoarthritis.


This research will not only help AKU patients, but will also benefit patients suffering from the more common osteoarthritis, demonstrating the value of researching rare diseases. Professor Gallagher, one of the researchers in Liverpool, said “Because of our work on alkaptonuria, we are now able to add a new piece to the puzzle of an illness that affects millions.”

This was brilliant timing with our research forum, and allowed us to discuss the findings. One patient asked how this discovery would really help AKU and osteoarthritis patients. Dr Adam Taylor, one of our experts who contributed to this research, replied:

“Something new that was previously unreported has now been identified and appears to be a contributory factor to getting arthritis. If these protrusions can be targeted therapeutically they may prevent or delay the onset of arthritis in these patients.

Osteoathritus (1)

Many other factors have been identified as contributing to osteoarthritis and we have been working to understand them for a number of years. Perhaps this new discovery will advance our understanding and help fill in some of the knowledge gaps that are missing in our understanding of the diseases processes in arthritis, moving us closer to a treatment or cure. “

DevelopAKUre Clinical Trial

Our clinical trial is very important, as it directly involves patients. One patient asked what dose of nitisinone is given in the UK. Our very own science expert, Oliver Timmis, answered, explaining how the dose of nitisinone given to UK patients attending the National Alkaptonuria Centre (NAC) is different to the dose used in the clinical trials. This is due to the results of our SONIA 1 clinical trial, which has identified a new dose, showing the importance of research.

He explained, “At the National AKU Centre, based in the UK, patients are prescribed 2mg per day. However in the DevelopAKUre clinical trials, based at three sites across Europe, patients are prescribed 10mg per day. The difference in dose is due to the clinical trials being based on new research. However we want to be absolutely sure of safety before we change the dose at the NAC. Therefore we’ll wait for the final results from DevelopAKUre before recommending any other changes to dose.”

Gene Therapy

There has been lots of interest recently in gene therapy research as a potential cure for genetic diseases. One patient asked about the research in to gene therapy for AKU. Her question was, “Has there been any significant advances and is it realistic to believe that a solution will be found in the next 5/10 years?”

Dr Richard Harbottle is a researcher in gene therapy, who is hoping to apply his research to AKU. He replied there has been great progress in gene therapy, and it has gone from being a hypothetical field to a real treatment area, benefitting patients with genetic diseases such as Haemophilia and Leber’s congenital Amaurosis.

He went on to say, “This progress along with our greater understanding of the molecular mechanisms of AKU certainly gives me great hope that we will be able to apply gene therapy to AKU within the next decade.”


We would like to say a big thank you to all of the experts and patients who took part. There were plenty more questions with some great answers, which you can see by heading over to the forums now. What did you learn about AKU research? What would you like our next expert forum to be on? Let us know by commenting on the PatientsLikeMe forum or emailing [email protected]