Introducing Jane

I have been involved with the AKU projects here at Liverpool University since 2006 when Professor Ranganath first contacted Jim Gallagher about possible research on AKU.

My first task was to show Laura Tinti how to culture osteoarticular cells when she came to our laboratory in 2006 on an Erasmus exchange from the University of Siena. Laura went on to develop the first in vitro model of AKU, which was published in Rheumatology in 2011. I have undertaken lab based projects in the past and am still undertaking histology on the ear biopsy samples, however I now also work as a central assessor for the Sonia 2 clinical trial on Nitisinone as a potential therapy for AKU.

When patients go to their medical centres, be it Liverpool, Paris or Piestany, they are seen by many specialists and data about their condition are collected. Amongst these data are clinical photographs of their eyes and ears. This is because pigmentation in the eyes and ears is a very common symptom of the disease and so by monitoring the degree of pigmentation in these places we hope to be able to gain insight into the progression –or lack of progression – of the disease.


Each person has photographs taken on their initial visit, before they are given Nitisinone or the placebo, then again 1 year later and finally 4 years later. These photos, from all the centres are uploaded onto a central database which I can access. They are all anonymised, I am only given a number to identify the patients so I have no idea who they are or whether or not they are being given Nitisinone.

I can magnify the images on my computer as very often the pigmentation may be small or hard to see and the lighting in the photographs can vary so I spend quite a lot of time finding the clearest photo of all those that have been taken of an individual. I must then describe the pigmentation in 2 areas of both eyes of that person (the nasal and temporal areas), I must decide if the pigmentation is none, slight or marked.

In the ears I must describe, in terms of none, slight or marked the level of pigmentation on the whole ear for both ears. I record my findings and send them to a PSR office in Amsterdam where they are compiling all the results.

At present I have nearly completed all the assessments for the patients' first visits in all the centres, and I am starting to look at the 1 year visits for some people. I am looking to find any changes in the pigmentation since they were last photographed. I am finding this part of the AKU project very interesting.

The intensity and colour of pigmentation definitely varies between people even taking into account a person's age, whether it will vary in response to the treatment with Nitisinone I am yet to discover, but being part of this clinical trial is very rewarding!



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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