Brexit could harm my sons’ access to treatment for rare ‘black bone’ disease, says father who quit job to find cure

"It’s going to be much more difficult to advance research in the UK' Nick Sireau tells The Independent

Cartilage in the elbow and other joints is blackened and made brittle over time leading to osteoarthritis (Nick Sireau / AKU Society)

Two brothers that suffer from a rare condition that will eventually turn their bones black and attack their joints, could be denied access to new treatments because of Brexit, their father has warned.

Julien and Daniel Sireau were born with a condition called alkaptonuria – also known as black bone disease or AKU. The extremely rare genetic condition affecting around one person in every 250,000.

“We found out a few months after Julien’s birth, when we saw his nappies were going red-black,” their father, Nick Sireau, told The Independent.

“We called in a doctor who tested for blood, didn’t find any and said it was down to my wife eating too much red cabbage… But a few months later after a whole load of tests at Great Ormond Street we came back with this diagnosis of alkaptonuria.”

The condition stops, Julien 17, and 15-year-old Daniel from breaking down a chemical called homogentisic acid which builds up during the digestion of food.

Over a lifetime this chemical stores up, making the bones and cartilage of the joints black and brittle, leading to painful arthritis, joint replacements, infections and heart damage.

From their late teens AKU patients’ eyes begin to develop microscopic pigments (Nick Sireau / AKU Society)

Both brothers are happy and active teenagers but the genetic disorder is a recessive condition.

“They are getting closer to the years when the disease will really start affecting them,” said Nick. “So the clock is ticking and we need to get things done.”

He added: “From age 16 to 17 they start to develop red-black pigments, microscopically, in their eyes – by the time patients are in their twenties you get joint problems.

“This is a steady deterioration, first off the spine, which will fuse and collapse, and then the weight-bearing joints – the knees and elbow – and the heart starts to have problems because the valves can calcify.”

Nick quit his job in 2010 to work full time with the Alkaptonuria Society in its bid to find a cure for the condition that affects just 88 people in the UK.

Thanks to €6m (£5.2m) in funding from the European Commission, the AKU Society is now five years into a six-year clinical trial of a new drug, nitisinone, which could potentially stop the disease in its tracks.

“There’s still one year to go in the trial, and it will finish in early 2019,” said Nick. “In mice, if we give it to them at birth they don’t develop any symptoms, halfway through their life it stops the progression of the disease."

He said early evidence of the drug in humans is that it slows progression for them too.

“If the data is good, next year the company who hold the licence for nitisinone will put in an application to the European Medicines Agency [EMA] to get a Europe-wide licence. But we don’t know whether the UK will still be part of the EMA.”

“If it’s not, then we have to go through a completely separate process to get a licence in the UK and I have no idea how long that would take.”

Senior health officials, drug companies and researchers have repeatedly warned about the negative impact Brexit could have for patients and it could be particularly difficult for the 3.5 million people in the UK with a rare disease.

The separate licensing could mean serious delays in getting access to new drugs as manufacturers prioritise selling their medicine in bigger markets.

It will also have an impact in the UK with patients’ access to clinical trials, which are often EU funded and have to work across multiple hospitals to get enough patients to provide good data.

The fears over medical research comes as health organisations and MPs call on the UK government to make clear how it will protect treatment for these patients.

“Research is no longer about one person in a lab finding something miraculously and shouting ‘Eureka’ – it is a very interdependent process,” said Niall Dickson, co-chair of the Brexit Health Alliance.

“We want to see preserved levels of cooperation which have built up over the last 15 or 20 years, on a whole range of areas, particularly on rare diseases where some fantastic cooperation has developed.”

A Department of Health spokesperson said: “The government recognises that continued cooperation between the EU and the UK is in the best interests of patients, and will ensure quality, safety and efficacy of medicines and devices.

“Our priority is to ensure that patients are not disadvantaged, that the UK will continue to play a leading role promoting and ensuring public health, and that industry must be able to get their products into the UK and EU markets as quickly and simply as possible.”