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Rare Diseases February 2019

Optimism, but challenges ahead for curing rare diseases


Dr Sheuli Porkess

Deputy Chief Scientific Officer, ABPI

When I hear about the experiences of people and families coping with rare diseases there are some all too common themes – strange and varied symptoms, and difficulties with diagnosis.

Even if a condition is diagnosed, the reality is that there probably isn’t a treatment for it. The fact that only 5% of rare diseases have any licensed treatment options available drives our scientists to discover the treatments and cures people need.

But there have been some developments that mean the future is brighter.

Firstly, the announcement of the NHS Genomic Medicine Service in the NHS Plan was excellent news. Unlocking the secrets of the genome will not only aid early diagnosis but should help us create much-needed new treatments and therapies. We look forward to working with government and the NHS to help patients take full advantage of the opportunities genomics presents.

Tackling the challenges in medicine approval

We have also made some progress towards unlocking the process for getting medicines approved for use in the NHS, which currently holds back treatments in this field. You need a certain level of evidence and the right number of patients for clinical trials to create the data needed to prove that a medicine works. But, by the very nature of rare diseases, the patient numbers – and therefore the data needed – simply aren’t there in the same way as for other diseases.

This year, we will be working with NICE on a review of how medicines are assessed. This will hopefully lead to important changes in the assessment process for new medicines that will overcome this barrier and help us bring new treatments to rare disease patients.

New agreement on medicine pricing

Another positive development is the agreement of a new, voluntary scheme for medicines pricing with government. Under the agreement, the overall NHS bill for medicines will not rise by more than 2% in any of the next five years. The scheme is aimed at helping the NHS adopt new innovations as they are created – which is good news for rare diseases and for medicines generally.

Increase in gene and cell therapy trials

There are also some positive developments in research, with reports [1]that cell and gene therapy clinical trials increased by 37% since 2017. We want to make sure the positive work of advanced therapy treatment centres continues to help drive this improvement further. 

Industry is determined to help combat the fear and misery that rare diseases can cause to so many. There’s a lot of work to do, and we know it must happen faster. It is also essential that we maintain close scientific collaboration with the EU, post-Brexit. But this year, we have seen some welcome steps towards the day when people with rare diseases can enjoy the same access to treatments as those with more common conditions.

[1] https://ct.catapult.org.uk/news-media/general-news/press-release-surge-cell-and-gene-therapy-clinical-trials

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