Tune in to hear Jess Barnes talk about the amazing AKU Society on @bbcradio4

SUNDAY 7.54am & 9.25pm
THURSDAY 6 MAY 2021 3.27pm

The AKU Society in the UK is raising funds to launch the first ever pediatric study into Alkaptonuria aka Black Bone Disease. A disease that, if left untreated, causes bones to turn black and brittle over time, leading to a host of torturously painful health issues. Don’t let time to run out for D and kids just like him, so we must act now.

The BBC link is below. So please tune in, have a listen and donate what you can – it will make a MASSIVE difference. Please don’t donate until the first appeal has aired.


The AKU Society in the UK is incredibly proud to announce that the European Commission (EC) has extended the existing marketing authorisation for nitisinone use in AKU. This is the culmination of years of hard work and dedication.

“We hope this decision means that patients across Europe will now begin to be able to access nitisinone. With this step, AKU no longer becomes a life sentence to pain and disability. We will continue to fight for patients’ access to the drug, across Europe and beyond. Thank you to everyone who has helped us reach this huge milestone. ”

Read the EC’s decision HERE.

SONIA 2 and DevelopAKUre – Results

We are delighted to announce that all the data from the SONIA 2 clinical trial has now been analysed and very positive trends have been highlighted.

Due to this, SOBI (Swedish Orphan Biovitrum) announced that they are going to apply to the European Medicines Agency (EMA) for market authorisation for the drug to be used in treating AKU. If successful, this could lead to nitisinone being licenced and available to all AKU patients in Europe.

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.”

Chief Investigator of DevelopAKUre Prof Ranganath said:

“It is wonderful that all the hard work that has gone into the study and the sacrifices made by patients to take part has been worthwhile. A big thank you to everyone. ”

More information will follow shortly. If you would like more information please email ciaran@akusociety.org.

The study is designed to treat patients and find the optimal dosage of nitisinone to obtain maximal reduction in levels of homogentisic acid and maintain safe levels of tyrosine. The long term objective in the target population of pre-symptomatic patients is the prevention of the characteristic effects on joint cartilage and tendons.

Clinical trial sponsored by University of California, San Diego


Prof. Ranganath will speak to about progress in the DevelopAKUre clinical trials to date, and answer questions from people living with AKU and their loved ones.

Speakers: Professor Ranganath Medical Director of DevelopAKUre clinical trial, Helen Bygott Research Nurse for DevelopAKUre clinical trial, Lesley Harrison Patient Support Manager AKU Society, Rob Pleticha Online Patient Communities Manager EURORDIS

Tuesday, 21 July 2015 from 3-4pm UTC London time, Find your time here.

Location: https://eurordis.adobeconnect.com/_a830956913/rare_disease_communities/

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The SONIA 2 clinical trials will take place in three test centres across Europe. The first patients will begin on April 7th in Piestany, Slovakia. Our Liverpool centre will be the next to start on April 14th. The final location to start will be the Paris centre in France, which is scheduled to begin on May 12th. Dates may change so keep your eye out for updates.

Check out this great visual blogpost.

For more information visit: akusociety.org

The main scientific paper from the first study (SONIA 1) was published last week in the Annals of Rheumatic Diseases. This study was the first part of the ongoing clinical trial, to find out what dose of nitisinone is best for patients. In today’s DevelopAKUre blog Oliver tells us about the results presented in the paper, and explains why they are important: