The UK Rare Disease Framework: The foundation for change

We mark Rare Disease Day this year with cautious optimism that the worst of the pandemic may now be behind us and that healthcare services may begin to return to ‘business as usual’.

In the last year we have witnessed the enormous pressure that COVID-19 has exerted on our healthcare system and have applauded the heroic effort to withstand the onslaught. With system capacity stretched to its maximum and routine and primary care scaled back, it’s sadly no surprise that the rare disease community has experienced delays in diagnosis and disrupted access to care and treatment.

Though the impact this disruption has had on patients, carers and families should not be understated, as we reflect on the year gone by it would be remiss to overlook some of the positive developments for rare diseases. In June for example, we saw the news that baby Arthur Morgan had become the first spinal muscular atrophy (SMA) patient in the UK to receive the one-off gene therapy, Zolgensma, through the NHS. Just this month, we saw another one-off gene therapy, Libmeldy, become available on the NHS for the patient suffering from the extremely rare disease metachromatic leukodystrophy (MLD). With a growing pipeline of equally innovative medicines for rare diseases, it is encouraging to see the NHS building its capability in administering these treatments as well as its commercial robustness.   

To mark Rare Disease Day 2022, the Department of Health has published its first action plan for implementing the UK Rare Disease Framework in England. Developed by delivery partners across the healthcare system and representatives of the rare disease community, the plan sets out a collection of actions aimed to bring about specific and measurable improvements to the treatment, diagnosis and care of people living with a rare disease in England.

Actions plans are also being developed for Scotland, Wales and Northern Ireland and will be reviewed every one to two years in order maintain progress in meeting the Government’s ambitions to deliver better health outcomes and improve the lives of those living with rare diseases.

Of particular interest to the BIA and its Rare Disease Industry Group (RDIG) are the actions that are included to improve access to specialist care, treatment, and drugs – the Framework’s fourth priority. Measuring the impact that these actions will have requires the inclusion of relevant and specific success metrics – something which the BIA has stressed to delivery partners.  

There is an exciting pipeline of novel and potentially life-changing treatments being developed by the life sciences industry and ensuring patients can access these in a timely manner is a key priority. Unfortunately, even after a treatment has been developed and deemed safe, rare disease patients often face a frustrating delay in accessing the treatment on the NHS.

Rare disease medicines create a complex set of challenges for the NHS and health technology assessment body – NICE – whose job it is to determine the value a medicine can provide. At present, these challenges are not adequately addressed, and this acts as a major barrier to patient access.

A handful of recent initiatives and policy developments have allowed stakeholders from across the rare disease community to make the case to policymakers for the systematic change required to improve patient access. Though the impact of individual developments remains to be seen, one thing that has been made clear is that piecemeal change won’t suffice. To overcome the barriers to access, it is crucial that all the pieces of the puzzle fit together coherently.

The rare disease action plans provide the opportunity to ensure alignment of the steps taken to improve patient access to rare disease medicines in a way that will enable the development of a more robust access pathway. There is unquestionably lots to be done by all stakeholders and delivery partners, but by building on the momentum already created, I believe the implementation of the Rare Disease Framework could provide the foundation needed for meaningful change.   

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Joe Smale, BIA Policy and Public Affairs Executive

Joe supports The BIA Rare Disease Industry Group (RDIG).
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