Other Research

Gene therapy

In partnership with the University of Liverpool, we have just begun a PhD programme looking at developing a gene therapy cure for AKU. We hope that the preliminary research conducted will create a foundation to explore the possibility of curing AKU via a gene therapy in the future.

SOFIA-Paediatric (Subclinical Ochronotic Features in Alkaptonuria Paediatric)

We are currently in the early phases of planning a European study to research the way in which AKU begins to present in children under the age of 16. This study will allow us to determine the age at which AKU begins to inflict damage on the body facilitating us to make an informed decision on the best age at which to begin nitisinone treatment to maximise the chance of children with AKU growing up without developing any physical symptoms of AKU.