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Marking rare disease day, the government today published a 2019 update on its implementation plan for England of the UK rare disease strategy.

Progress and accountability on the implementation of important commitments is welcome and this document is sure to be poured over in the coming days.

The key ask in the UK this Rare Disease Day, however, is for the government to commit to a refresh and review of the entire UK Strategy for Rare Diseases before the end of 2020. The current strategy, published in 2013, is due to expire next year and RDUK claims much of it is now obsolete, since ‘technologies, policies and systems have moved on’.

In terms of treatments for rare diseases, it is undoubtedly true that the landscape today is somewhat different from the environment in which the strategy was written. Though a significant proportion of people living with a rare disease are still without a diagnosis, let alone an effective treatment, in recent years there has been surge in the orphan drug market and more people than ever before do have the possibility of treatment.  The combination of scientific advances together with an improved policy environment is fuelling the increased number of orphan therapies.

The extent to which this wave of drug development is having an impact on patients, of course remains the key question.  It is certainly having an impact on the access to medicines landscape, as the volume of orphan products looked at by NICE, indicates. While over the course of its nearly two decades existence to the end of 2018 NICE published 48 technology appraisals of orphan medicines, 20 of these took place in just the past 12 months. With orphan medicines representing a greater volume of NICE’s workload, the system must clearly adapt to take this into account. Many commentators note that NICE methodologies were not designed for rare disease treatments and this shift in its workload will be a central consideration of the NICE methodologies review later this year.

The good news is that much of this scientific progress and the additional workload it generates at NICE, is seemingly making a difference to patients.  Of the 48 technology appraisals of orphan medicines for rare diseases, NICE recommended 75% of them for some or all of the eligible patient population. Further, it seems to have been doing even better in the past year – of the 20 orphan products looked at in 2018 (representing 40% of the total number of HTAs carried out by NICE), 85% received a positive recommendation in some form.

These figures do of course hide the restrictions placed on access, the appeals companies had to lodge to overturn an initial negative decision and the complex pricing negotiations and discounts required to secure access.  It also does not reflect those treatments that have not made it to NICE at all, falling as many do, through the gap between HST and STA and finding themselves in the quagmire of alternative access routes.

As NICE begins to mark 20 years since its establishment in 1999, the rare disease space offers a useful prism through which to look to its next decade. The challenges facing NICE from the medicines and med tech pipeline are being taken seriously and many of us are working collaboratively to help ensure they are met.  Decideum is shortly hosting a seminar with the Director of the Centre for Health Technology Evaluation at NICE looking at the evolving access landscape.  With so much scientific progress with treatment and the pricing and reimbursement landscape becoming increasingly complex, the policy environment needs to keep pace and a new strategy to take us beyond 2020 must surely be forthcoming.


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