Black Bone Disease - It's Time for a Cure
Synopsis: Promising Black Bone Disease treatment called nitisinone requires funding for medical tests and clinical trial patient costs.1
Author: AKU Society Contact: 66 Devonshire Road, Cambridge, U.K. PH. 0122-332-2897
Main DigestAlkaptonuria, or AKU for short, was the first genetic disease to be discovered more than 110 years ago. Despite this, it still has no cure, and the medical world remains largely unaware of its existence and impact on everyday life.
A rare condition that may first be identified when a baby's urine turns dark brown or black when exposed to oxygen. The disease is also known as "AKU," "Alcaptonuria," "homogentisic acid oxidase deficiency," and "homogentisic acidura." It affects one out of 250,000 to 1 million people (especially in Slovakia and Dominican Republic) and can cause severe osteoarthritis in those affected. The buildup of acid in the body creates black pigment that attaches to cartilage surrounding the joints. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Symptoms: Alkaptonuria is often asymptomatic, but the sclera of the eyes may be pigmented (often only at a later age), and the skin may be darkened in sun-exposed areas and around sweat glands; sweat may be colored brown. Urine may turn brown or even inky black if collected and left exposed to open air, especially when left standing for a period of time. Kidney stones and stone formation in the prostate (in men) are common and may occur in more than a quarter of cases.
AKU is also known as Black Bone Disease. This is because an acid in the body accumulates at 2,000 times the normal rate, attacking the bones and turning them black and brittle. It causes severely debilitating osteoarthritis, heart disease, and other serious health complications. Patients become increasingly disabled as they get older.
But, a cure may be possible.
Three years ago, our CEO and Chairman, Nick Sireau, gave up his job in order to devote his time to finding a cure for AKU after his two kids were diagnosed. During these three years, he has worked tirelessly with teams in Liverpool, the United States and across Europe to plan a clinical trial. Now a very promising treatment called nitisinone has been found. When taken early enough in life, it's effectively a cure. The real challenge is proving that this drug works in a clinical trial, in order to license nitisinone for use in AKU. The cure will then become a reality.
AKU patients are scattered around the world, often faced with misdiagnosis, a lack of efficient care and a lack of awareness. This means patients from across Europe and beyond are needed to run a good clinical trial.
But they can't do it without your help.
So far they have raised enough to pay for all the medical tests and some of the patient costs, but still need $98,000.
Chart showing how the funds will be spent
They need this money to:
- Support sister societies across the world.
- Help care for them properly while they are on the trial.
- Bring patients from across the world to their clinical trial centers.
- Support the work of the AKU Society, the patient group for people with Black Bone Disease.
- Organize events across Europe for patients with Black Bone Disease, in order to give patients everywhere access to information about the disease and the trials.
- Allow patients to bring carers with them when they attend the trial. As some of the patients are extremely disabled, traveling long distances by themselves can be extremely daunting.
Nick's vision is for children to never suffer the pain of Black Bone Disease. With your help, they can make this a reality. Please visit www.indiegogo.com/projects/cure-black-bone-disease, and help change hundreds of patients lives.
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