Child with rare disease, EB (epidermolysis bullosa)
Child with rare disease, EB (epidermolysis bullosa)

Small numbers of patients, small amounts of research and small numbers of clinical experts make sharing an imperative in rare diseases. Simply put, Brexit is a block to sharing.

Many months now after the Brexit vote, we are still in the process of unraveling what Brexit means for those living with rare diseases and, more importantly, trying to understand how we can work together to minimise any potential negative impact.

The rare disease community is more collaborative and more international than any other in the health sphere. All of us who work internationally in this space have strong links with valuable collaborators and colleagues in the UK. With the UK being a leader in healthcare and research, these relationships are critically important for people living rare diseases all across Europe and beyond.

One of the major concerns for the rare diseases relates to implications for the European Reference Networks (ERNs), which are bringing together the best clinical specialists, to improve rare disease care. Over the last year, many rare disease clinicians in the UK have been immersed, along with their European colleagues, in the ERN application process, with the deadline for submissions coming just 2 days before the Brexit vote. There is now great uncertainty about the role, if any, that UK centres of rare disease expertise can play in the ERNs. This is deeply concerning for UK rare disease patients who may not now have easy access to clinical expertise in other EU countries and also for Irish patients, for whom UK centres of expertise are often the first port of call.

For rare disease patients within the UK, it could also mean delayed access to medicines. It’s been reported that centres in the UK currently participate in about 40% of clinical trials for adults with rare diseases1. Now, these centres are likely to be excluded from EU harmonised procedures for clinical trials, which are to take effect in the coming years. This could reduce access to innovative treatments for UK patients and will weaken many rare disease clinical trials which are usually multicentre by necessity. Questions are also being asked about what the departure means for industry with a focus on rare disease therapy development, that currently benefits from EU orphan drug legislation.

Then there are the implications for research. International collaboration between researchers is important in all aspects of health research but nowhere more than in the rare diseases. EU funding (currently through Horizon 2020) has been a very important facilitator of collaboration. Between 2007 and 2013, 17% of the EU’s health research budget was won by the UK2.  It might be possible for the UK to negotiate its way back into Horizon 2020 funding but it is unlikely to achieve the same access to funding as it currently enjoys3. The implications also go far beyond British research groups and will be damaging to the many rare disease research networks that are reliant on valuable UK partners.

While we still don’t know what exactly the implications of Brexit will be, it is difficult to imagine a scenario, where rare disease patients are not negatively affected.  The rare disease community has always been stronger than national borders however and now, more than ever, we need to work together to ensure that we overcome the challenges that Brexit has created.

Avril Kennan, DEBRA Ireland