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Guest Blogger: Help Us Cure Black Bone Disease – Time Is Running Out

March 6, 2015

The Orphan Druganaut Blog is honored to have Sorsha Roberts, Online Communications Officer for the patient group, AKU Society, as a Guest Blogger. Alkaptonuria (AKU), or Black Bone Disease, was the first genetic disease ever identified over 110 years ago. Despite this, it still has no approved treatment. This is why the AKU Society is working hard to push new research for the disease. With a clinical trial for a promising drug already underway, the AKU Society is now running a new crowdfunding campaign to fund crucial research to accompany the trial. The crowdfunding campaign started in February and will end April 01, 2015 (11:59pm PT). One can visit the Indiegogo campaign at

Black Bone Disease

Black Bone Disease is incredibly rare, with fewer than 100 patients in the UK, and just over 1000 diagnosed cases worldwide. It causes the build-up of an acid in the body, which attacks bones and other tissue, turning it black and brittle. This causes severe joint damage and a risk of heart disease.

The AKU Society is a charity working to support patients with the disease. As a patient group we work closely with patients to provide them with the information they need about their disease. Our ultimate aim is to improve the care for all patients. To do this we need to drive research to find an effective treatment.

Crowdfunding for Medical Research

The use of crowdfunding to fund rare disease research is a growing trend as patients take things in to their own hands. In 2013 we launched our first crowdfunding campaign to raise essential funds for patient support in our clinical trial to test a promising drug called nitisinone. If given at the correct age, this drug has the potential to prevent all of the debilitating side effects of Black Bone Disease. The campaign was a huge success, and we raised over $100,000 in total.

Our clinical trial is now well underway, with all patients successfully recruited. However, we still have one thing we need to find out. What is the best age to give this drug? Given too early and the drug could potentially cause side effects harmful to growing children. Given too late and the debilitating damage caused by Black Bone Disease will have already set in. To find the optimum age to treat patients, we need to raise funds for some new research.

The Importance of Research

Black Bone Disease affects patients throughout their whole lives. From a very early age urine is a dark colour, staining nappies. Other symptoms can include dark earwax and sweat. These are harmless symptoms, and children seem perfectly healthy.

Jess is the parent of a little boy with Black Bone Disease. She first noticed something was wrong when she saw dark red staining in her son’s potty. For over a year her and her husband made visits to several doctors, and after some research online, she eventually got her little boy tested for Black Bone Disease. She said “When Daniel was first diagnosed, we were absolutely devastated. I was terrified of what the future could hold.

“He’s a very happy and healthy four year old, but invisible damage may have already started, and that’s why it’s so important to find the right age to start taking this drug.”

Rosie was also diagnosed with Black Bone Disease as a baby after her parents noticed a dark staining in her nappies. She is now 21, and is studying medicine at university. She has noticed symptoms such as dark staining from her sweat, but is otherwise healthy. Having met older patients she said, “It would be incredibly important for me, and other patients like me, to know when the best time is to start nitisinone, to prevent us getting the more severe aspects of the disease, including the arthritis.”

Black Bone Disease is a progressive disease. Patients start to experience joint pain as young adults, and this becomes progressively worse. They soon develop crippling back and joint pain. Older patients need serious joint operations, and can become severely disabled.

The Research

We already have the medical funding to cover the research costs of this new study, but we have no funding for patient and carer travel and support. Because the disease is so rare, patients are scattered all across Europe. We need to raise $30,000 (£20,000) to be able to support patients to come to our research centre in Liverpool from all across Europe. Many of our patients are disabled, and need family members, or carers to accompany them in order to travel. We want to make it possible for anyone with Black Bone Disease to take part.

Our researchers will study the progression of Black Bone Disease by comparing patients from a range of different age groups. They will test how patients walk using gait analysis, and will also collect blood, urine and cartilage samples. Time is running out for them.

One can visit the Indiegogo campaign at

Logo courtesy of the AKU Society.

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