BIA calls for new pathway to give UK patients access to innovative rare disease medicines

London, UK, 4 December 2025 – The BioIndustry Association (BIA) today releases its report, From innovation to impact: unlocking patient access to innovative rare disease medicines, calling for a new pathway to give UK patients access to innovative rare disease medicines.

The BIA finds that despite the UK’s rare disease ecosystem having a solid foundation, more work is needed to build a connected, flexible and risk-proportionate access pathway to turn discovery into delivery for patients facing high unmet need. This report, developed by the BIA’s Rare Disease Industry Group (RDIG), lands at a critical time as the UK considers how innovative and cutting-edge medicines are valued following the landmark UK-US pharmaceuticals deal. With NICE reviewing its methodology for assessing health benefits, and the MHRA developing a new regulatory pathway for rare disease therapies, there is an opportunity to propel the UK’s position as a global leader in rare diseases innovation and ensure NHS patients can benefit from the latest advances. The report sets out solutions to enable this.

A complex, fragmented access landscape for patients

The report finds that the pathway through which rare disease medicines move from regulatory approval to patient access is, all too often, fragmented and unpredictable. This is reflected in the UK’s declining international position on access to rare disease medicines, with the European Federation of Pharmaceutical Industries and Associations (EFPIA)’s Waiting to Access Innovative Therapies (WAIT) Indicator Survey finding that the UK ranked second in Europe for orphan drug availability of non-oncology orphan drugs in 2018, but has since declined, with England now ranking tenth for the availability of non-oncology orphan drugs, according to the 2025 dataset.

The impact of limited access falls heavily on patients, families, and public finances. For example, delayed diagnosis costs the NHS £340 million annually, with an estimated £14.9 billion loss in tax revenue due to reduced workforce participation.

Additionally, in a targeted rare disease stakeholder survey conducted to inform the development of the report, 64% of stakeholders rated access to innovative medicines for rare disease patients as poor or very poor, compared to just 12% for non-rare conditions.

Key solutions from the report

The report sets out solutions across four priority areas for reform:

• Foster stronger links between regulators and industry: Embed early and structured engagement between the MHRA, NICE and companies as standard for rare disease medicines, ensuring clear evidence expectations and smooth progression from licensing to access. This would be supported by a reformed Early Access to Medicines Scheme (EAMS) to create a reimbursed early-access pathway.
• Modernise appraisal and reimbursement: Evolve NICE methods to reflect long-term and societal value while unlocking the under-utilised Innovative Medicines Fund to support better patient access to innovative rare disease medicines where cost-effectiveness-based assessments are not appropriate.
• Strengthen adoption and implementation: Implement visible NHS leadership and digitally connected rare disease hubs to drive system coordination and stronger data generation.
• Secure enduring national leadership: Establish a UK Government Rare Disease Champion and set a long-term vision for the next UK Rare Diseases Framework to align delivery across departments and the devolved administrations.

Jane Wall, Managing Director of the BIA, said:

Navigating life with a rare disease can be incredibly challenging. For the 3.5 million people living with a rare disease in the UK, the journey from symptoms, to diagnosis, to treatment involves long periods of uncertainty, with only 5% of rare diseases having a licensed treatment. And even when an effective therapy is available to help treat their condition, patients in the UK still face further delays, complexity and uncertainty – with some ultimately missing out on treatment altogether.

The BIA, working through its Rare Disease Industry Group (RDIG), is committed to helping deliver meaningful change so more patients can access the medicines they need. We welcome recent announcements on changes to how NICE will evaluate cost-effectiveness, including the updated value set for evaluating health-related quality of life. We hope this will be an opportunity for the long-term and societal value of innovative medicines for rare diseases to be taken into account.

 Lawrence Tallon, CEO of the Medicines and Healthcare products Regulatory Agency (MHRA), commented:

It is encouraging to see the BIA’s report so clearly reinforce the direction we are taking at MHRA – towards a regulatory landscape for rare diseases that is more agile, more patient-centred and better equipped to bring innovative treatments to those who need them most. The UK has all the ingredients to lead the world in rare-disease therapies: a world class academic and research base, a single national genomics service and the unparalleled scale and diversity of NHS data.

The task now is to connect these strengths and harness them through a new regulatory framework, as we announced last month. There is more work ahead, but I want to reassure everyone affected by a rare disease that we are listening, and we are ready to act decisively – driving faster access to pioneering treatments while upholding the highest standards of safety.

Nick Meade, CEO of Genetic Alliance UK, added:

In these exciting moments for innovation in rare-condition treatments, we need a system where the cutting edge of science – not the decision-making process – is the limiting factor in what our community can expect. These ideas are welcome, and this is the right moment to take a strategic overview so we can tackle the barriers that continue to stand in the way of addressing unmet need.