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The AKU Society, a patient-led charity which supports sufferers of Alkaptonuria (AKU) or black bone disease, today announced that it is in a race against time to try and secure the $30,000 needed to fund pioneering research which would determine the correct age that potential new drug treatment Nitisinone should be taken.
Despite being the first genetic disease to ever be diagnosed over 110 years ago, there is still no approved treatment or cure for the ultra-rare black bone disease, which turns bones and tissue black and brittle, causing a type of debilitating early- onset osteoarthritis and can leave patients severely disabled.
While the majority of symptoms occur later in life, there is currently no way of knowing the hidden damage that black bone disease is inflicting on suffers in early life. As a result the AKU Society has launched an Indiegogo crowdfunding campaign to fund new research into when Nitisinone should be taken. Taken early enough in life it could irradiate all symptoms of AKU and dramatically improve quality of life for the 100 diagnosed suffers in the UK.
UK scientists are now leading crucial research, which could result in a cure being licensed for this disease. The AKU Society is part of a consortium of partners running an EC funded trial in to a potential drug called Nitisinone. This drug is a promising treatment, which could stop the build-up of damaging acid in patients’ bodies, preventing the debilitating symptoms from developing. If successful, this latest fundraising would help to bring patients from across Europe to the research centre in Liverpool to gather as much data as possible to find out the best age to start taking Nitisinone.
Dr Nick Sireau, Chairman of the AKU Society, and parent of two children with Black Bone Disease, said: “With clinical trials underway it may only be a few years until there is a fully licensed cure for black bone disease. In order to treat these patients at the correct age, all patients must be diagnosed when they are young.
“However, researchers still need to find out the best age to start this treatment. Given too early and the drug may cause unwanted side effects in children. Given too late and the damage caused by this progressive disease may have already started.”
The AKU Society have also recently released a new online learning module aimed at GPs. Due to its rarity, many health professionals have not heard of black bone disease. Patients can often struggle for years to get a diagnosis. The module has been created with the Royal College of General Practitioners (RCGP) to try to improve the rates of diagnosis.
The module is free for anyone to use and can be found at:
The crowdfunding campaign can be found at:
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If you would like to run a story, interview a patient, or get more information or pictures, please contact: Sorsha Roberts, Online Communications Officer Email: sorsha@akusociety.org Office: +44 (0)1223 322897
About Black Bone Disease
Black Bone Disease, or its scientific name alkaptonuria (AKU), was the first genetic disease discovered. Patients are deficient in homogentisic dioxygenase (HGD), an enzyme that breaks down toxic homogentisic acid (HGA). This leads to a build-up of HGA, which causes bones and cartilage to turn black and brittle, leading to a severe form of osteoarthritis and an increased risk of heart disease. Other symptoms include black urine, black spots in the eyes, discoloured ears and kidney, prostate and bladder stones. It is a painful and debilitating disease, with symptoms typically starting when patients are in their 30s. Traditional treatments include pain management and joint replacement surgeries, but these do little to slow disease progression. Most AKU patients will need joint replacements in their life, with many having more than 10 such procedures.
About the AKU Society
The AKU Society is a patient group dedicated to helping patients diagnosed with Black Bone Disease. It helps and supports patients, raises awareness of the disease and supports research into its treatment. The AKU Society is based in Cambridge, UK.
About the DevelopAKUre clinical trials
DevelopAKUre is a series of clinical trials designed to assess whether a drug called nitisinone is an effective treatment for AKU. It is led by a consortium of 13 partners across Europe, including the coordinator (Royal Liverpool University Hospital), the sponsor (University of Liverpool) and the AKU Society. It is taking place at the National AKU Centre in Liverpool, UK; Hopital Necker in Paris, France; and the National Institute of Rheumatic Disease in Piestany, Slovakia. The trials are principally funded by a €6 million grant from the European Commission (EC), with further funding from the Indiegogo crowdfunding campaign covering patient and carer expenses, and additional support work.
About Indiegogo and crowdfunding
Crowdfunding is a new method of donating to good causes. It relies on small donations from a large number of people in order to reach specific funding goals. Crowdfunding has become a popular way of donating online, and several websites exist to help individuals, charities and companies make their projects known to the public.
Indiegogo is one of the world’s leading crowdfunding platforms, having raised millions of dollars for thousands of campaigns worldwide.
About the Royal College of General Practitioners (RCGP)
The Royal College of General Practitioners is a network of more than 50,000 family doctors working to improve care for patients. The college works to encourage and maintain the highest standards of general medical practice and act as the voice of GPs on education, training, research and clinical standards.
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