The new UK Rare Diseases Framework

The new UK Rare Diseases Framework – a cause for optimism?

Access to orphan medicines remains a key area of focus for MAP and, like many others in the rare disease community, we welcomed the publication in early January of the UK Rare Diseases Framework which builds on the previous commitments in the 2013 UK Strategy for Rare Diseases.

There is considerable optimism that this Framework can reset the agenda and achieve its ambitions to improve the lives of those living with rare diseases. Whether this can be delivered is dependent on the implementation of the Framework and this was where its predecessor fell short. The Framework represents a shared commitment from all four UK health ministers to deliver positive change for people living with rare diseases. However, the crux is ‘Phase 2’ where each nation will develop its own action plan to meet the aims set out in the Framework; these are expected to be published this year ‘where possible’. MAP is acutely aware of the extreme pressure on health departments across the UK due to COVID-19 but it is vital that this ‘where possible’ caveat does not lead to delay and that the opportunities provided by the Framework are not missed.

There are factors at play which do provide hope that this new Framework may be better positioned to bring about meaningful change. The government sought to ensure that the rare disease community and the patient voice was central to the development of the Framework. This was underpinned by the findings from the National Conversation on Rare Diseases survey eliciting a response which exceeded expectations with over 6,000 participants, of which more than 90% were from patients or their families and carers. This was an unprecedented opportunity for the patient voice to make itself heard and for the government to gain a real insight and in-depth understanding of the major challenges for those living with rare diseases.

This survey will have played its part in ensuring that one of the key themes the Framework, quite rightly, identifies is to ensure that the patient voice continues to be at the heart of decision-making and that commitments should be developed in consultation with patient representatives.

It is an exciting time in terms of the development of innovative treatments for rare diseases, where in most case there are no existing licensed treatment options. This includes transformative treatments such as cell and gene therapies and the Framework acknowledges that its publication is set against a background of major advances in diagnosis and treatment.

It is therefore encouraging that improving access to treatments is included amongst the four priority areas alongside faster diagnosis, increased awareness among healthcare professionals and better coordination of care. The complex nature of the development of new treatments is recognised, and importantly so are the challenges for health technology bodies when assessing medicines for rare diseases with small patient populations, and the inherent difficulties surrounding limited and uncertain data.

The priority areas are intrinsically entwined and only by ensuring that there is improvement across the board, and a drive for excellence, can outcomes and experiences for people living with rare conditions be improved. For example, earlier diagnosis can enable prompt access to treatment which in many cases can improve outcomes; increased awareness among health professionals will facilitate earlier diagnosis; and challenges in accessing specialist centres may be transformed if changes, such as virtual appointments, made necessary by COVID-19 can be embedded in the long-term. High-quality, large-scale research on whether and how genomics can be implemented for screening in newborns, which the UK is well placed to undertake, has clear potential and the advent of new treatments makes a thorough review of the Newborn Blood Spot screening test critical.

MAP believes the positive reception to the Framework from a range of stakeholders, including in the context of access to treatments, is justified. The Framework should also be considered alongside other initiatives and policy developments which have the potential to improve access to innovative treatments for rare conditions. The recent consultation undertaken as part of NICE’s ongoing review of its methods and processes included a number of proposals which could improve access to treatments for rare conditions and acknowledges the inherent challenges in assessing orphan medicines and the need for acceptance of a greater degree of uncertainty and risk. The proposed Innovative Medicines Fund which will be consulted on shortly, may also provide opportunities for early access to innovative treatments for rare diseases. Furthermore, now that the UK has left the European Union, it may be possible to accelerate access through the MHRA’s new Innovative Licensing and Access Pathway.

These are real opportunities and stakeholder support for the timely development of UK Framework for Rare Diseases action plans, for each of the four UK nations, is vital to maintaining momentum, as is keeping a Ministerial focus on the range of interventions required across the policy board to support patient access to treatments for rare diseases.

If you would like to discuss MAP’s work on rare diseases in more detail, please don’t hesitate to contact me on

Sarah Walker

Sarah Walker

Consultant, Policy and Public Affairs

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