Good news isn’t always easy to come by in the field of rare diseases, but there has been a big announcement in the few weeks that we thought worth sharing with you. Many people in the rare disease community will be aware of the work of the AKU Society, and their central role in the delivery of a multinational clinical trial of the drug nitisinone to treat alkaptonuria (known as SONIA 2).

This phase three trial ended in January, and in the last two weeks it has been announced that analysis of data from the clinical trial has now been completed and very positive trends have been identified! As a result of this brilliant news, SOBI (Swedish Orphan Biovitrum) have announced their plan to apply to the European Medicines Agency (EMA) for market authorisation for the drug nitisinone to be used in AKU treatment. If this application is successful, this could lead to nitisinone being licensed and available to all European AKU patients.

Findacure would like to congratulate our co-founder Nick Sireau and our office mates the AKU Society on this amazing news, and all of their hard work to get to this point. Nick has been on a long journey – from being the shell-shocked parent of a child who had just received a diagnosis of a rare, debilitating condition, to seeing the completion of this seven year international clinical trial. For the study to produce such positive trends is a huge step forward for the AKU Society, and AKU patients globally. The story of their work highlights the incredible power of patient groups in the rare disease world.

Obviously, such progress didn’t happen without huge amounts of help – from researchers and PhD students to people living with AKU, people with vastly different backgrounds were brought together in this project of epic proportions. We hope that the results of these clinical trials will serve as a source of inspiration for patient groups in the rare disease community who also have big plans for development treatment for their own rare disease.

CEO and Chair of the AKU Society Nick Sireau said:

“I originally joined the AKU Society because my two sons were born with AKU. I refused to let my children grow up with the debilitating symptoms I read about on the internet. I dedicated my life to finding an effective treatment for this disease. I now see a future where this may be possible.

“I am immensely proud of the hard work and dedication of everyone involved in the DevelopAKUre clinical trials over the last seven years, and I would like to thank every one of them. I would especially like to thank the patients: without their selfless sacrifice and steadfastness over the last years; we would not be where we are today without them.

“Although this is the end of a long process, it is also the beginning of a new one. It may be years before we know if nitisinone will become available. But one thing is for certain; we are now one huge step closer to an effective disease-modifying treatment available to AKU patients everywhere.”

It is great to see such positive progress in a project that is important to the whole rare disease community. We hope to see great progress in the next few years, and hopefully more patient groups able to follow the AKU Society model.

For more information regarding these trials, please contact Communications Manager Ciarán Scott: [email protected]