From innovation to impact: unlocking patient access to innovative rare disease medicines

Foreword

Navigating life with a rare disease can be incredibly challenging. For the more than 3.5 million people living with a rare disease in the UK, the journey from symptoms, to diagnosis, to treatment often 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. 

These inequalities mean that where a person lives, the nature of their condition, or the strength of local services, can all influence whether and when they receive care. This creates avoidable and unjust variation.

This report shows that the ecosystem that governs access – from regulation through appraisal to commissioning and adoption – has not kept pace with advances in scientific innovation.

In the survey undertaken to inform this report, stakeholders across industry, the NHS, academia and patient organisations told us the same thing: the UK’s rare disease access pathway is fragmented. Evidence expectations vary across different parts of the system. Appraisal methods often struggle to reflect small populations or non-traditional endpoints. Early access routes are inconsistently used and not always commercially viable. And even when reimbursement is secured, adoption across the NHS remains uneven and lacks national leadership to drive accountability.

Other countries have acted decisively to address these challenges. Amongst others, Austria, France, Germany and Spain have created more flexible approaches that enable earlier, predictable access while maintaining public accountability. If the UK is to remain competitive as a launch market and to truly deliver for people living with rare diseases, it too must do the same.

The solutions outlined in this report offer a practical way forward: earlier and more structured dialogue between regulators, Health Technology Assessment (HTA) bodies, and companies; a more proportionate appraisal and access pathway for small-population therapies; stronger adoption mechanisms through specialist hubs and clearer clinical leadership; and a renewed national strategy to drive reform over the short, medium and long term.

Most importantly, these solutions focus on what matters: ensuring that innovation translates into real and timely benefits for patients. By embedding equity at each stage of the pathway, they help ensure that access is determined by clinical need – not by geography, condition type or system variation.

The BIA, working through its Rare Disease Industry Group (RDIG), is committed to helping deliver these changes. With the right reforms, the UK can turn its scientific excellence into an access system that is equitable, faster and fit for the future – and ensure that no person living with a rare disease, nor their families, waits longer than necessary to receive the treatments they need.

Jane Wall

Managing Director
UK BioIndustry Association (BIA)

Executive summary

The UK enjoys a reputation as having one of the most advanced and trusted healthcare systems in the world. Yet, when it comes to patient access to rare disease medicines, the system still lacks the flexibility and pragmatism needed to recognise innovation and ensure patients benefit from it.

Today, the pathway through which rare disease medicines move from regulatory approval to patient access is, all too often, fragmented and unpredictable. This fragmentation creates inequitable access across conditions, regions and patient groups, despite the UK’s strong scientific and clinical foundations.

While individual components – e.g. the Medicines and Healthcare products Regulatory Agency’s (MHRA’s) efforts to streamline regulatory approval processes, the National Institute for Health and Care Excellence’s (NICE’s) rigour in HTAs, and the NHS’s capacity to deliver an advanced standard of care – each perform strongly in their own right, they do not consistently operate effectively as an interconnected ecosystem.

This is reflected in the BIA’s Health Ecosystem Stakeholder Survey, conducted amongst rare disease stakeholders, to inform the development of this report. It is also evident in the 2025 Association of the British Pharmaceutical Industry (ABPI)-BIA Rare Disease Member Survey, which found companies frequently encounter duplicated evidence requirements, inconsistent expectations between regulatory and HTA bodies, and limited flexibility within formal appraisal frameworks.

For patients and clinicians, these fragmentations result in slow and uneven access to promising new therapies. Despite ongoing efforts to evolve existing processes, the system, as a whole, remains poorly configured to accommodate the realities of rare disease drug development: small populations, limited comparators, and non-traditional clinical endpoints.

Other countries – including Austria, France, Germany and Spain – have adopted more proportionate and flexible approaches, and are already seeing faster access, greater investment and stronger links between innovation and uptake. To retain its leadership in life sciences – and to turn discovery into delivery – the UK must act decisively, and it must act now.

This report builds on a growing body of evidence calling for reform. It draws on and complements the BIA’s 2023 report with PwC, which compared how the UK performs internationally on rare disease access; LifeArc’s 2025 report Accelerating R&D for Rare Disease in the UK, which identified key actions to drive forward research into new rare disease treatments and technologies; and PCD Research’s new Blueprint for accelerating rare disease innovation and clinical trials in the UK, which sets out the opportunity for the UK to unlock a paradigm shift in rare disease research.

Together, these reports point to a clear and shared conclusion: the UK has the scientific strength and institutional foundations to lead in rare disease innovation, but doing so requires a more connected, proportionate and outcomes-focused approach that embeds equity throughout the access pathway.

Building on these contributions, this report sets out a practical framework for reform to ensure that patients in the UK can benefit from this innovation. It identifies four areas where targeted change would deliver the greatest impact:

• Early dialogue and engagement between regulators, NICE and companies to align evidence expectations and bridge licensing and access.
• Access pathway reform to ensure the full value of innovative medicines are recognised.
• Adoption and implementation measures to drive system coordination, promote uptake and deliver stronger real-world data and clear accountability for implementation.
• Structural enablers to embed visible national leadership and align delivery across government, the NHS and the life sciences sector.

Taken together, these solutions would create – and maintain – a more equitable, faster and more predictable access pathway; one that delivers for patients, strengthens the NHS, and ultimately takes the UK’s potential as a global leader in rare diseases from innovation to impact.

Summary of proposed solutions:

 

Introduction

People living with rare diseases face high levels of unmet need

Across the UK, over 3.5 million people – approximately one in 17 people – live with a rare disease. While each condition may affect only a small number of individuals, the collective impact of these conditions on the health and care systems, on families and carers, and on wider society is substantial. Approximately 70% of these conditions begin in childhood, and many are chronic, life-limiting and progressive.

Despite major advances in genomics, data science and precision medicine, fewer than 5% of all recognised rare diseases currently have a licensed treatment. Patients and their families therefore face long diagnostic journeys, limited information and few or no options for treatment.

Where treatments do exist, however, the picture is notably different: diagnostic times are significantly shorter. Across Europe, the time to diagnosis is around four times faster for rare diseases with an available treatment than for those without. This demonstrates a virtuous cycle in which greater medical awareness and therapy availability support earlier diagnosis, enabling timelier and better-adapted care.

The UK’s limited provision of newborn screening exacerbates this diagnostic challenge. The NHS Newborn Blood Spot (NBS) Programme currently only screens for ten rare conditions – among the lowest in Europe – and the process of adding new conditions can take years. By contrast, several European countries routinely screen for more conditions – nearly five times as many in the case of Italy. The limited scope of UK screening constrains early diagnosis and timely referral into specialist care – both of which are vital when treatment windows are short and when clinical evidence depends on early intervention.

Yet even after diagnosis, many patients and families encounter a fragmented system of care. Specialist expertise for rare diseases is concentrated in a limited number of centres, referral pathways are inconsistent, and coordination between services remains weak. The absence of a defined national structure to link diagnosis, treatment and data collection means that opportunities for earlier intervention and shared learning are often missed.

This fragmentation extends to how the uptake of new treatments are adopted, with access to approved medicines varying significantly across regions depending on local commissioning capacity and clinical readiness. Recent analysis by the House of Commons Library highlights this persistent variation in the uptake of NICE-recommended medicines across England, reflecting broader challenges in translating innovation into consistent national practice.

This lack of coordination not only delays access to appropriate care, but also constrains the NHS’s ability to generate the high-quality, real-world evidence needed to inform commissioning, appraisal and policy.

Unlike therapies for more common conditions, rare disease medicines face unique barriers across development, appraisal, and adoption. By definition, rare disease therapies target small populations with limited clinical precedent or established endpoints. Evidence, therefore, often relies on single-arm studies, surrogate outcomes, or real-world data. While regulators have made steps to support earlier approvals under uncertainty, downstream appraisal and reimbursement processes have been slower to adapt.

In England and Wales, most rare disease medicines are assessed through NICE’s Single Technology Appraisal (STA) process, which was not specifically designed to manage high uncertainty or very small patient populations. The Highly Specialised Technologies (HST) route provides an alternative, but its criteria are tightly defined, and many therapies and indications fall outside its scope.

Recent commitments to increase NICE’s STA cost-effectiveness thresholds and implement a new value set for measuring the impact of new medicines are a welcome signal that the system is beginning to evolve. However, for rare disease medicines, where evidence constraints, small populations and long-term societal impacts sit outside conventional appraisal metrics, these reforms will only deliver meaningful improvement if they are designed in ways that genuinely work for rarity. Broader value assessment must therefore be implemented with explicit recognition of the distinct evidentiary realities of rare conditions.

Recent data reinforces this challenge. In 2023/24, 18 orphan drugs were assessed under NICE’s STA process (six recommended) and seven through HST (five recommended). In 2024/25, 15 orphan drugs were routed through STA (11 approved) and only one through HST, which was not recommended.

This pattern underscores a structural issue: while the UK has mechanisms to assess rare disease medicines, they are not configured for the realities of small populations, limited evidence, and high unmet need.

Findings from the 2025 ABPI-BIA Rare Disease Member Survey reinforce this. Companies cited the restrictive use of the HST pathway and the rigidity of STA methods as key reasons why many orphan drugs are not submitted for NICE evaluation, despite MHRA approval.

Internationally, this is reflected in the UK’s declining position on access to rare disease medicines, with the European Federation of Pharmaceutical Industries and Associations (EFPIA)’s Waiting to Access Innovative Therapies (W.A.I.T.) Indicator Survey finding that the UK ranked second in Europe for orphan drug availability as of 2018, but has since declined, with England now ranking tenth, and Scotland twelfth, for the availability of non-oncology orphan drugs, according to the 2025 dataset. 

These findings also speak to a broader strategic question facing governments in the UK and internationally: how to sustainably fund innovative medicines, particularly in rare diseases.

Emerging analyses show that spending on Orphan Medicinal Products (OMPs) is unlikely to threaten the sustainability of national pharmaceutical budgets. Instead, differences in OMP uptake between countries appear driven less by economic capacity and more by political prioritisation and policy choices.

This highlights that current access barriers are structural rather than fiscal – and that with the right policy frameworks, it is possible to support earlier, more equitable access without compromising budgetary discipline.

Enduring challenges and a changing regulatory context

The scientific and commercial challenges of developing rare disease medicines are well known. Small patient populations limit trial size and statistical power; the absence of natural-history data complicates the evaluation of long-term benefit. For developers, these challenges drive up development costs and risk, sometimes leaving no commercially viable route to reimbursement. For patients, the result is delayed or inconsistent access to therapies, even when those treatments are clinically approved.

The UK has long recognised the need for proportionate approaches outside standard HTA pathways, using mechanisms such as specialised commissioning via the Clinical Priorities Advisory Group (CPAG), Individual Funding Requests (IFRs), and early managed-access arrangements. While some remain in use, many predate more structured processes such as the HST and the Cancer Drugs Fund (CDF). Their continued relevance demonstrates an enduring recognition that small-population therapies often require bespoke decision-making.

More recently, this need has been acknowledged at a regulatory level. The MHRA’s Rare Therapies and UK Regulatory Considerations paper, published in November 2025, sets out proposals for a new, dedicated regulatory pathway for rare therapies to make it quicker and easier to test, manufacture and approve treatments in the UK. They represent a positive statement of intent to position the UK as a global leader in rare disease regulation. However, their impact will depend on parallel progress across appraisal, reimbursement and commissioning so that regulatory flexibility translates into earlier and broader patient access.

Developers of rare disease treatments are choosing not to market their products in the UK because of the low chances of reimbursement with the current HTA assessment processes, with many also terminating their HTA applications. - Survey respondent, Patient Group / Charity

The UK and devolved governments have similarly put in place some steps to strengthen rare disease policy and infrastructure

The 2021 UK Rare Diseases Framework established four national priorities: faster diagnosis, improved awareness among healthcare professionals, better coordination of care and fairer access to treatment. Each UK nation has subsequently published action plans to implement these priorities, supported by regular progress updates to help maintain momentum.

Complementary initiatives reinforce this direction, across each of the four nations of the UK, with the publication of the Life Sciences Sector Plan (LSSP) and 10-Year Health Plan (10-YHP) being amongst some of the most significant recent developments from a Westminster government policy perspective (see box below). Together, these developments offer a strong policy foundation from which to build and achieve progress. The challenge now is to translate this momentum into measurable improvement in patient access.

The UK remains a global leader in biomedical research, but this leadership is not yet matched by performance on patient access. While the pace of scientific discovery has accelerated, the frameworks that govern regulatory approval, appraisal and reimbursement have evolved more slowly.

The UK Government’s Life Sciences Competitiveness Indicators (published in 2024) show that the proportion of new medicines available in England compared with those approved by the  European Medicines Agency (EMA) has fallen from 72% in 2016–2019 to 56% in 2019–2022, thereby highlighting the continued challenges in securing timely access to innovation for patients.

Recent international comparisons underline the scale of the challenge. Only 50% of non-oncology orphan drugs approved by the EMA  between 2020-2023 were available to patients in England by 5 January 2025 (46% in Scotland), compared to 85% in Germany, 74% in Italy, 67% in France, and 61% in Spain. This decline illustrates a widening gap between the UK’s research excellence and its ability to translate innovation into patient access. Findings from the BIA’s Health Ecosystem Stakeholder Survey, detailed in the next section of this report, reinforce this picture.

The opportunity now is to connect science, policy and delivery into a more defined access pathway

The UK’s rare disease challenge does not lie in the quality of its science, but in the coordination of its systems. Despite world-class research, too many innovations stall between discovery and delivery.

Building on insight from stakeholders across the health and life sciences ecosystem, the following sections of this report propose a practical framework for achieving this ambition of greater integration. It maps the rare disease access journey – from discovery through approval, appraisal, reimbursement and adoption – identifying where targeted changes can help support better patient access to innovative rare disease medicines.

Survey findings

BIA Health Ecosystem Stakeholder Survey findings

To inform the development of the solutions detailed in this report, the BIA RDIG conducted a targeted survey of cross-ecosystem stakeholders. The survey brought together 34 senior stakeholders from across government, arm’s-length bodies, the NHS, academia, patient organisations, and industry. Each participant had direct experience of the UK’s rare disease policy environment, regulatory processes, or patient-access pathways. Together, they provide a broad and informed snapshot of how the system is working in practice.

Across this diverse group, a consistent message emerged: the UK has world-class scientific and regulatory foundations, but the systems that govern access have not kept pace with the realities of rare disease innovation. The pathway from approval to adoption was described as fragmented and unpredictable, with duplication of effort, inconsistent expectations, and slow progression from regulatory approval to patient use.

Solutions

Solutions to improve patient access to rare disease medicines

Improving access to medicines for rare and ultra-rare diseases depends not on a single reform, or a silver bullet, but on how effectively the system connects across the full pathway – from early development to adoption in clinical practice.

As set out in the preceding sections, all too often, biopharmaceutical companies encounter variable expectations, duplicated requirements, and uncertainty over how evidence generated in one stage will be interpreted in the next. The result is a process that can feel fragmented and unpredictable, even though certain individual parts may perform well.

Stakeholder feedback from the BIA Health Ecosystem Survey points to a clear way forward. What is needed is a more linear and predictable access journey: one that sets evidence expectations early, bridges approval and adoption, and provides structured ways to manage uncertainty while patients benefit.

This section sets out how this aspiration can be realised. By making engagement earlier, more predictable, and more proportionate to the realities of rare disease, we can reduce uncertainty for all parties and ensure that promising treatments reach patients more quickly.

From innovation to impact: how the rare disease access pathway can be improved

To move from innovation to real patient impact, the rare disease access pathway needs to shift from today’s fragmented, unpredictable journey to a more connected and proportionate model.

By aligning expectations early, tightening the link between approval and adoption, and creating clearer, better-coordinated routes through the system, we can build an access pathway that consistently moves promising treatments to patients faster and more equitably.

Early dialogue and engagement – getting the right foundations in place

Early and open dialogue between regulators, HTA bodies and companies is essential to building a shared understanding of evidence requirements and possibilities, to ensure that promising rare disease treatments can move smoothly from licensing to patient access.

For rare disease therapies, early dialogue matters more than anywhere else. Many of these conditions are unfamiliar to regulators and HTA bodies, and the supporting evidence base is often limited. Developers, therefore, rely on alternative or non-traditional endpoints to demonstrate clinical benefit and capture a therapy’s potential impact. Small and dispersed patient populations, few comparators, and the practical challenges of running conventional trials make evidence generation inherently complex, thereby reinforcing the importance of clear, coordinated engagement across the system from the outset.

This problem is well recognised. Respondents to the BIA stakeholder survey identified data and evidence as one of the most important enablers of access, with nearly 50% ranking it either first or second out of four enablers. Discussions at BIA RDIG workshops confirmed why: when evidence expectations are unclear or unrealistic at the outset, every subsequent step in the process is affected. International examples show that a more structured approach is possible.

Respondents saw value and appraisal and data and evidence themes as highly important for enabling better patient access to innovative rare disease medicines.

 

The UK has already laid important groundwork. Mechanisms such as the Innovative Licensing and Access Pathway (ILAP), joint MHRA–NICE scientific advice, and Early Access to Medicines Scheme (EAMS) offer valuable platforms for early engagement and managed access. Yet, their use remains uneven, reflecting both the absence of a consistent, system-wide approach and features of early-access schemes that limit routine uptake for very small populations.

Against this backdrop, embedding these tools within a more structured and predictable framework would deliver greater benefit.

Making early engagement a routine rather than discretionary feature of development would improve alignment between regulatory and appraisal processes, reduce uncertainty, and help ensure that evidence expectations are clear from the outset. A genuinely coordinated model of early dialogue would create firmer foundations for the rest of the access pathway, enabling promising treatments to move more smoothly from development to patient use.

Access pathway reform – turning evidence into action

Securing marketing authorisation is only one milestone on the path to patient access. For rare disease therapies, the period that follows remains one of the most uncertain and protracted stages of the journey.

While all new medicines enter health technology assessment, most are channelled through NICE’s Single Technology Appraisal (STA) pathway – an assessment framework primarily designed for larger patient populations with greater access to comparative data. For rare disease medicines, this framework can create an imbalance between the available evidence and the evidentiary thresholds applied. The result is that potentially transformative and curative therapies, developed to treat small and severely affected populations, face long and unpredictable routes to reimbursement and ultimately delayed patient access.

The HST route was created to address this challenge, but its remit is narrow, and the number of eligible products remains limited. Hence, for many rare disease therapies, there is no tailored pathway between licensing and routine commissioning, and they fall between the gap of HST and STA.

Findings from the BIA’s Health Ecosystem Stakeholder Survey that have informed the development of this report echo this picture. As outlined above, nearly two-thirds (64%) of respondents described access to innovative medicines for rare disease patients as poor or very poor, while more than 70% said it was worse than in comparable markets (with European markets frequently cited here).

64% of BIA survey respondents described the current level of access to innovative medicines experienced by UK patients with rare diseases, as poor or very poor versus only 12% for non-rare patients.

In particular, respondents highlighted “duplicated evidence requirements”, “inconsistent expectations between regulators and HTA bodies”, and “limited flexibility within appraisal frameworks” as key barriers to faster access. As one participant observed, “the system continues to reward volume over rarity, even where clinical value is transformative.”

To restore predictability, England needs a more flexible, proportionate framework – one that gives companies clarity on where and how their medicines will be assessed, while ensuring that public funding continues to be allocated in a transparent and evidence-led way.

 

Adoption and implementation – embedding access and uptake

The final phase of the access journey determines whether innovative medicines actually reach patients in practice.

Even when rare disease treatments secure regulatory approval and reimbursement, uptake within the NHS can remain slow and inconsistent. This reflects longstanding structural barriers, complex commissioning arrangements, variable clinical readiness and an absence of clear, system-wide accountability for delivery.

Unlike other major conditions, there is no national framework or coordinated network for rare diseases. Expertise is dispersed, data is fragmented, and adoption often depends on local initiative rather than national design. This is compounded by a lack of data transparency on treatment adoption and patient outcomes via existing processes and services, creating uncertainty over the consistency of delivery of national standards.

This fragmentation also limits the NHS’s ability to generate consistent real-world data to inform future access decisions.

 A clearer, connected national infrastructure is needed to link care delivery, data transparency, evidence generation, and service planning so that innovation reliably translates into patient benefit. The following proposals outline how this can be achieved.

The proposals that follow – appointing a National Clinical Director for Rare Diseases and establishing a network of NHS rare disease hubs – set out how stronger leadership, clearer coordination and better evidence infrastructure can ensure that new treatments are implemented consistently and equitably. Together, these reforms would help ensure that when innovative medicines reach the NHS, they also reach the patients who need them.

 

Structural enablers – establishing the framework for sustained reform

Effective reform of the rare disease treatment pathway requires more than process improvement; it depends on visible leadership to drive coherence, accountability and follow-through across the system.

Today, responsibility for rare disease innovations is currently dispersed between many different bodies across government, including the MHRA, NICE, NHS England, the Office for Life Sciences and the Department of Health and Social Care. Each has an important role, but the absence of a single coordinating mechanism means that promising policy developments often lose traction during implementation.

Strengthening structural leadership and modernising the service model are therefore essential. The UK needs clearer accountability at the centre, a refreshed national strategy that reflects today’s scientific and health-system context, and a contemporary service framework capable of supporting consistent, equitable delivery.

 

Conclusion

A new way forward – from innovation to impact

The solutions detailed in this report represent a new way forward for improving access to rare disease medicines in the UK. Together, they offer a more coherent and predictable system that connects every stage of the access journey – from early regulatory engagement and appraisal through to commissioning, adoption and real-world evidence generation.

To make this happen, all parts of the UK life sciences ecosystem will need to work even better together.

This includes the MHRA and NICE continuing and intensifying existing efforts to create structured, joint early engagement as standard practice to ensure that evidence expectations are clear and proportionate from the outset. DHSC and NHS England should establish a dedicated, value-based pathway for rare disease medicines where traditional appraisals are not appropriate, drawing on the underused Innovative Medicines Fund to support earlier, evidence-linked access. NICE should continue to evolve its methods so that they recognise the long-term and societal value of innovation in rare diseases. And the NHS must ensure that implementation keeps pace with innovation.

Visible leadership will be essential to make this a reality. A UK Government Rare Disease Champion, working alongside a National Clinical Director and under a refreshed UK Rare Diseases Framework, would provide the strategic coordination, accountability and momentum needed to deliver lasting change. Industry, government, the NHS and patient organisations must work together to build a system that manages uncertainty pragmatically while ensuring patients benefit without unnecessary delay.

If implemented in full, these reforms would create a fairer, faster and more connected access pathway for rare disease treatments. Patients would gain earlier access to life-changing treatments; the NHS would benefit from a more efficient, evidence-driven allocation of resources; and the UK would strengthen its position as a global leader in rare disease innovation – turning scientific excellence into tangible outcomes for patients, the health service and the wider economy.

By acting now to modernise and better connect the rare disease access pathway, the UK can demonstrate how a coordinated, evidence-led system can deliver for patients, strengthen the NHS, and secure the country’s position at the forefront of health innovation.