According to a story from the Independent, father Nick Sireau is worried that Brexit, the United Kingdom’s plan to withdraw from the European Union, could affect the ability of his two sons with a rare disease to get the treatment that they need. His sons have an extremely rare condition called alkaptonuria, also known as black bone disease.
Alkaptonuria is an inherited genetic disorder in which the body cannot process tyrosine and phenylalanine, which are amino acids. Early in life, affected individuals may not display any symptoms, but their urine may be an unusually dark color, typically brown or black. As the patient ages, they eventually begin to experience pain in their weight bearing joints, particularly along the spine, knees, and hips. Other symptoms include weakening of bones, heart valve problems, hearing loss, and a greater likelihood of kidney stones, gall stones, and similar deposits. Symptoms first appear at age 30, and many people will need joint replacement surgery in their fifth decade. The disease does not appear to affect life expectancy, but it can cause debilitating pain and can drastically affect quality of life. While pain and other symptoms can be treated, there is no treatment that can reverse or halt the process that causes the condition. To learn more about alkaptonuria, click here.
At this juncture, Nick’s sons, Julien and Daniel, are still in their teens, which means that the disorder has not yet begun to have a major effect on them. Nevertheless, the clock is ticking. Nick quit his job in order to work with the Alkaptonuria Society to help find a cure for the condition, and hopefully in time to help his sons. Only 88 people in the UK have alkaptonuria.
Their greatest hope is a drug called nitisinone, which appears to stop the accumulation of homogentisic acid. In a mouse study, animals that were given the treatment early in life did not develop the condition, and it was also able to stop disease progression when given to mice that already had symptoms.
The problem is that the trials are being evaluated by the European Medicines Agency, which is a department of the EU. The timing of the approval and of Brexit will be crucial; if it gets approved before the UK’s withdrawal, then the boys should get access to the drug. Otherwise, the drug will have to be evaluated separately in Britain, which could further delay its approval. Hopefully, nitisinone will continue to perform well and get approved without any other factors slowing it down.
