SOFIA: The Patient Perspective

Over the past few months, alkaptonuria (AKU) patients have been making their way to Liverpool from every corner of Europe to take part in the SOFIA Observational study.

SOFIA is a cross-sectional observational study designed to underline at what age AKU patients begin to develop symptoms of the disease. Once the SOFIA study is complete, our knowledge of AKU will have increased, and we will hopefully be in a position to find out what age to begin any future treatments into the disease.

In this week’s blog, we hear from patients who have already given up their time to take part in SOFIA, and find out why they have taken part in the study and what it was like whilst they were at the Royal Liverpool University Hospital.

Joao, 22, came all the way from Portugal for SOFIA:

“I wanted to take part in SOFIA Observational study because I felt that I need to help the science and also the possible new generations that will suffer from the disease. AKU is such a rare genetic disease that I felt the obligation to help the researchers with everything I could. In addition to this, I have gain more knowledge about AKU.
Also, I had an amazing time in Liverpool. I could meet people that are interested in my disease. I also had the opportunity to meet a Portuguese person that have AKU. That was really nice because I have never talked with someone with the disease. We talked a lot and friendship was born. I hope to keep this friend for a long period of time. “

27-year-old Kristiana, from Latvia, came to Liverpool to take part in SOFIA and to receive information from world leading AKU experts.

“I decided to take part in study's Sofia because in my country is not enough information about AKU. I wanted to understand what will happen with my health in future. Studies helped a lot. I reach a lot of information and it appeased me. Now I know how to better live with AKU and how improve quality of life.”

One of the youngest SOFIA patients, 16-year-old Sean, travelled with his Dad from the Republic of Ireland. His Dad Mick had this to say about Sean’s time in Liverpool:

“Everything went very well on our visit, the staff/doctors Prof etc. were very pleasant to deal with and made us feel most welcome. Sean wanted to take part in SOFIA as he was one of the unique patients diagnosed with AKU at 10 months old and it was suggested that he take part in the trials once he turned 16, he felt that by participating in the trial that he could play his part in the great work being carried out by the society. Sean was delighted to meet other patients with the same problems and to be able to talk to them about their experiences etc.

During his time in Liverpool, Sean found the staff/doctors and professor very helpful and easy to discuss his issues with, they were very approachable, competent and dedicated. The trials didn't take up a lot of the time spent in Liverpool as the timing and organisation were excellent so there was plenty of "free time" too. When leaving, Sean's final words to Professor Ranganath were "If you want me to come back again anytime just ask"

Dr Milad Khedr joined the team at the Royal Liverpool University hospital in early 2016 and is one of the main study Doctors for the SOFIA trial. Along with helping with SOFIA, Dr Khedr is also researching the effect of nitisinone on tyrosine levels.

“I joined the AKU research team earlier this year. My role in the SOFIA study is to ensure the suitability of patients for enrollment in the study, and also to carry out a full clinical assessment of their AKU disease when they arrive in Liverpool. AKU is a multi- system disease and it is important to capture the disease impact in this group of patients. This will help expand our current knowledge and ultimately inform future management decisions on using nitisinone for treating AKU.

I see this as a two- way process. As patients learn more about AKU, we also learn firsthand how AKU has affected them. This will help us better understand the natural history of the disease. Of course, we wouldn't be able to do this study without the generosity of our patients who have to travel far to get to Liverpool for their assessments; and also the dedication and hard work by members of the AKU research team and the AKU Society.”




Welcome To DevelopAKUre

DevelopAKUre is a series of major international clinical trials, run by a consortium of 12 European partners. It aims to study a potential new drug, called nitisinone, and assess its potential effectiveness in treating the rare disease, alkaptonuria (AKU).

DevelopAKUre is co-funded by a grant from the European Commission. This website is run by a UK patient group, the AKU Society. Learn more about AKU on the AKU Society's What is AKU page.


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