Whilst the challenges facing clinical research today are numerous, running trials for rare diseases brings with it a whole different set of problems. We interviewed Dr Richard Thompson, a man who, as Head of Research at Findacure, knows this better than most.
Recruitment is the obvious barrier to rare disease trials:
'Because there are so few patients and split around the world, it can be very hard to identify and recruit them for trials. Patient groups that form nationally or internationally can give you access to that network very quickly, making recruitment a much easier process.'
Away from recruitment, the lack of knowledge about many rare diseases means that 'it can be hard to know exactly how the disease should progress and that makes it difficult to understand the landmarks or endpoints you are looking for in a trial'.
However, Dr Thompson explains that there are some advantages to running trials in rare populations:
'Delivering the trials can actually be easier sometimes because often, especially in Europe, there are specialist centers that treat these rare diseases...Patients are used to the travel and going there to engage with treatment and are also really driven to participate in research, as unfortunately in many cases they don't have any form of treatment.'
Dr Thompson sees the experience of running these trials for rare diseases as invaluable, especially as medicine becomes increasingly tailored to the individual:
'The field of personalized medicine is a really big area that almost makes lots of common diseases much rarer. There is a need for trials to become more focused on smaller sub-populations within illnesses with specific genetic mutations for example.'
This is something those working with rare diseases are already well versed in. The simple fact there are so few patients means every one is treated as an 'individual and you try to have patient input all the way through the process of the clinical trial pathway'. Indeed, Dr Thompson believes that a lot can be learnt from this patient-centric approach, as 'the rare disease research field is ahead of other areas of research in patient engagement'.