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Brexit rare disease warning from Cambridge dad hoping to cure sons

A Cambridge dad hoping to find a cure for a devastating condition which affects his two boys has warned of the potential consequences of Brexit on rare disease research and access to medicines.
– In the Brexit Health Alliance’s latest Brexit Bulletin podcast, father-of-two Nick Sireau says it is vital to maintain the ability to fund cures for diseases such as alkaptonuria.
– Rare diseases affect an estimated 3.5million people in the UK. Because they are rare, patients are isolated and expertise scattered so an EU-wide approach has been an enormous benefit.
– As Brexit gets closer, patients and families affected by rare diseases are keen to make sure they continue to benefit from European collaboration on research and regulation on new medicines and medical devices.
– By working in partnership, the EU and the UK have together achieved many research breakthroughs that have saved and improved countless lives, believes Aisling Burnand of the Association of Medical Research Charities, Brexit Health Alliance member and part of the working group on medical research. Only by multi-national collaboration is it possible to involve sufficient numbers of children and adults with rare and less common diseases in clinical trials. In the second phase of Brexit negotiations an environment that builds on this strong foundation and supports innovative medical research in the future must be secured.
Commenting on the recommendations from its most recent report on Brexit and patient access to medical research, Niall Dickson, co-chair of the Brexit Health Alliance, said:
“It is absolutely vital in research that different organisations and institutions are able to cooperate with each other.
“Research is no longer about one person in a lab finding something miraculously and shouting ‘Eureka’. That’s not how research develops. It is a very interdependent process.
“And over the last 30 or 40 years we have become much more dependent on our European friends and colleagues as they have become more dependent on us to help advance medical and health research in the wider sense.
“The Brexit Health Alliance wants to see, as far as possible, alignment between our regulatory systems and those of Europe. 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. And we want to see the UK absolutely plugged in to the research process.”
Quitting his job to find a cure
Nick’s eldest son Julian, 17, was diagnosed with alkaptonuria – also known as black bone disease or AKU – shortly after he was born, as was his younger brother Daniel, now 14.
Alkaptonuria affects about one in every 500,000 people. Its symptoms take affect later in life and it weakens bones, turning them black. The illness causes severe pain and can lead to heart disease, kidney infection and osteoarthritis.
Nick quit his job in 2010 to work full-time on finding a cure and, alongside others, set up the AKU Society.
They identified a promising drug, called nitisinone, and formed a consortium of 13 organisations, including pharmaceutical companies and universities from across Europe.
They raised £6million from the European Commission to fund clinical trials.
Depending on the results of their current trial, which will be available early next year, they hope to apply to the European Medicines Agency (EMA) for marketing authorisation across the continent. But without a clear path on Britain’s future relationship with the EMA, the future for the potential treatment is uncertain.
Dr Nick Sireau said: “We had been told by the doctors that there was nothing we could do, that we just had to enjoy the children’s childhoods and that later in life, when they got to young adulthood, they would start developing all these problems but there was nothing we could do about it.
“And we believed there probably was something we could do about it but it would just take time.”
Nick Sireau added: “If we do leave the European Union, I think it will potentially damage the alkaptonuria movement because we have been thinking on a European scale and if we want to do further trials on new treatments which are different and potentially better than nitisinone we would still need to think on a European scale.
“It is very important for me to be able to find a treatment for this disease because Julian is now 17, Daniel is aged 14, so they are getting closer to the years when the disease will really start affecting them. So the clock is ticking and we need to get things done.”