This article raises an important issue, relating to what is known in the medical profession as an orphan disease. The disease Alex suffered from is very rare, with only 500 new cases of bone cancer diagnosed every year. Comparatively, over 45,000 people are diagnosed with breast cancer every year. But these very rare “orphan diseases” are in no less need of attention and the pharmaceutical industry is committed to developing new treatments and medicines in this area. However, there are number of issues and barriers unique to developing treatments for orphan diseases that pharmaceutical companies face, and these are often not well understood by the general public.
One of the main problems is that because there are few people with a particular orphan disease, it makes it very difficult to run meaningful clinical trials as there are so few patients. This often poses significant problems in gaining a licence for a new medicine. Similarly, it is always necessary to conduct clinical trials for a new medicine, not only here in the UK, but right across the world. This further complicates the process and studies can therefore take many years to complete, which in turn impacts regulatory timelines for licensing a medicine.
Another issue, faced this time by local healthcare professionals, is that because of the uncommon nature of some diseases it can be difficult to diagnose, prevent and treat these rare conditions. Problems also persist with access to orphan drugs. Of the five major economies in Europe – the UK, Spain, Germany, France and Italy, we as a nation spend the lowest proportion of our medicines budget on buying treatments for orphan diseases; just one per cent of our total medicines budget.
The pharmaceutical industry takes the development of orphan medicines very seriously, and we are proud that one of our leading members has a unit dedicated to developing treatments for rare diseases. But more needs to happen in future and we need a new approach that firstly, makes it easier for orphan medicines to be developed, and that secondly, means that these new medicines are much more readily available to patients.
We want to see a government-led national strategy which makes it easier for patients to access the medicines they need by guiding local healthcare professionals to make use of those treatments that are available and help the UK catch up with its European neighbours. A new framework also needs to take into account the unique regulatory barriers pharmaceutical companies face when developing new, innovative treatments for uncommon conditions.
With the right plan and, with the right support from government, we are confident that as an industry we can build on the good work already being done and further develop more effective treatments for those rare diseases that impact the lives of so many in the UK.
Chief Executive of the ABPI