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Ground-breaking patient-led AKU study published in the Lancet

​European wide clinical trial shows drug Nitisinone halts the symptoms of ultra-rare disease AKU – giving hope to thousands worldwide

A water-shed study has now been published in the leading medical journal the Lancet, showing the first effective treatment for the rare genetic disease alkaptonuria (AKU).

The treatment, Nitisinone, prevents the build-up of an acid that attaches to joints and bones turning them black and brittle, leading to severe pain, joint replacement, and potential lifelong disability.

Twelve organisations – under the name DevelopAKUre – implemented the trial, called SONIA 2 (Suitability Of Nitisinone In Alkaptonuria 2). It included hospitals, universities, patient groups, biotechs and a pharma company from all over the European Union and was financed by a £5m grant from the European Commission.

The AKU Society patient group took a leading role in the consortium and was instrumental in securing its funding, along with the design of the trial and recruiting patients. SONIA 2 is thought to be the first truly patient-led clinical trial.

Sobi, the company that makes the drug, is now waiting for the European Medicines Agency (EMA) to licence the drug for use in AKU, leading to it being made available to all AKU patients in Europe.

Nick Sireau, CEO of the AKU Society, said: “Nitisinone gives AKU patients great hope for the future. Both my sons were born with AKU and now face a future without growing up with the damaging symptoms of the disease.

“Working together across various sectors has led to a drug that will make a real difference to people’s lives. I am immensely proud of all the hard work and drive of those involved and the patients who volunteered to take part in it.”                                                        

Findacure/ Barbara Asboth Photography

Nitisinone gives AKU patients great hope for the future. Both my sons were born with AKU and now face a future without growing up with the damaging symptoms of the disease Nick Sireau CEO AKU Society

Professor Lakshminarayan Ranganath, Chief investigator of DevelopAKUre, said: “We are immensely proud to reach this ground-breaking milestone in finding a treatment for AKU. The outcome from this research gives hope to those patients diagnosed with this rare condition. It is a significant step forward that we will now be able to provide an effective clinical treatment.

“The work carried out within the SONIA 2 clinical trial is great example of how important research such as this is, and the power it has to make a substantial and life changing impact for our patients.           


About Alkaptonuria (AKU)

Alkaptonuria was the first identified genetic disease and is also known as ‘Black Bone Disease’. It causes a build-up of toxic acid in the body that eats away at the patients’ bones, cartilage and tissue, turning them black and brittle. This leads to a variety of life-changing disabilities. Patients develop early onset osteoarthritis, which can destroy every joint in the body. One patient describes how “it feels as if your bones are wrapped in barbed wire”. The immobilising nature of the disease can lead to social isolation, unemployment, and chronic pain. More serious conditions such as heart disease can also form because of the hardening of tissue around the heart. The AKU Society works to improve the lives of patients and those who support them, whilst researching for a cure.


About the AKU Society

Founded in 2003, the AKU Society offers life-changing support to patients and their families. It provides patients with personalised care and home visits, along with the latest information from specialist workshops, our new website, social media and online patient communities. The AKU Society also pioneers ground-breaking research into the disease, including a European-wide clinical trial into a drug called nitisinone which finished earlier this year and the exploration of future innovative therapies. The AKU Society sees a future where no one born with AKU anywhere in the world has the symptoms of this disease.  Through patient support, community building and medical research, the AKU Society aims to truly transform the lives of AKU patients. 

Contact: Ciarán Scott, Head of Projects & Communications.  
ciaran@akusociety.org

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