SOFIA was our observational study and finished recruitment of AKU patients in January 2017.
What is SOFIA?
SOFIA stands for “Subclinical Ochronotic Features in Alkaptonuria”. Ochronosis is the process where cartilage is discoloured black by the effects of AKU. It is thought to be the earliest sign of the most damaging aspects of AKU. Therefore, SOFIA will study different ages of patients to see at what age ochronosis starts, and therefore better predict the time before joint damage begins. This is vital to know, so that we can best decide at which age to begin treatment with nitisinone.
We recruited 30 patients in SOFIA, from a range of ages. The chart below shows we hoped to find 2 male and 2 female patients for each 5-year age range from 16 to 50+.
Why do we need SOFIA?
Laboratory studies have shown nitisinone can completely prevent ochronosis from developing. This means the ideal time for AKU patients to start taking nitisinone is before they develop any ochronosis. At the moment, many doctors do not want to treat children with nitisinone because children are still developing and AKU symptoms don’t begin until adulthood.
If SOFIA finds ochronosis begins at a young age, doctors will be able to rethink this decision. If it finds ochronosis does not begin until later in life, we will know postponing treatment until adulthood is the right thing to do.
What did SOFIA involve?
Patients enrolled into SOFIA visited the clinical site in Liverpool, UK, for one single visit. This visit lasted three days, and all travel and accommodation expenses for patients were covered by the study and a translator was available for those that did not speak English. During the visit, several tests were performed, including urine tests, blood tests, an MRI scan, ear biopsy and gait analysis.
An ear biopsy involves taking a small piece of cartilage from the back of the ear. This should be painless, and will not leave a scar. This cartilage will then be examined to look for early signs of discolouration. The gait analysis measures how patients walk, by using special cameras to record their speed and position of joints. This will show if the patient is starting to experience joint pain, as even small changes to the joint will change how they walk.
What happens next?
All the samples taken during the SOFIA trial will be analysed and checked for ochronosis. They will then be compared against samples taken from 30 healthy volunteers who do not have AKU, in order to show the damage down by the disease.
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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