Today, the Medicines and Healthcare products Regulatory Agency (MHRA) launches a landmark public consultation on a proposed new regulatory framework that will spearhead the development of rare disease treatment in the UK. This framework – which sets out a new model for how rare disease therapies for individuals could be tested, licensed and monitored – is intended to make it quicker and less costly to safely develop therapies for rare diseases which affect 3.5 million people in the UK.
What the new framework proposes
The MHRA’s proposed new Rare Disease Therapies Regulatory Framework sets out a fundamentally different approach. Rather than requiring developers to meet standards designed for large-population diseases, it would introduce a flexible, risk-proportionate framework that acknowledges the realities of rare disease development – while keeping patient safety at its heart.
The new framework will apply to rare conditions affecting not more than 1 in 50,000 people where there are quantifiable barriers to conducting a ‘standard’ clinical trial. Entry to the proposed new pathway would be guided by criteria such as the severity of the disease and unmet need.
Central to the proposal is a new Investigational Marketing Authorisation, which would combine clinical trial approval with a progressive route to market authorisation approval. This means that where there is limited evidence, patients could gain access to innovative treatments earlier, subject to approval by the National Institute for Health and Care Excellence (NICE) on NHS use.
Compressing the regulatory pathway in this way is expected to reduce the cost of developing rare disease therapies and potentially make medications more affordable.
The framework has been developed in close partnership with the newly-established Rare Disease Consortium – bringing together patients, carers, academics, industry and healthcare partners – to ensure that the people most affected by rare diseases have helped shape the rules that will govern their treatments.
Public Health Minister Sharon Hodgson said
For the millions of people in the UK living with a rare disease, and for the families and carers who support them, the search for effective treatment can be long, exhausting and deeply uncertain.
These landmark proposals represent an important step towards a more agile and compassionate system – one that recognises the unique challenges of rare disease research while maintaining the highest standards of patient safety.
By helping innovative therapies reach patients faster, this framework has the potential to transform lives, strengthen the UK’s position as a global leader in life sciences, and give renewed hope to families who have waited too long for progress.
I encourage patients, clinicians, researchers and carers to take part in this consultation and help shape the future of rare disease treatment in the UK.
Julian Beach, Executive Director of Healthcare Quality and Access at the MHRA, said
Patients living with rare diseases often face significant barriers in accessing effective treatments. This consultation marks an important step towards a more flexible and responsive regulatory system that reflects the challenges and realities of rare disease therapy development.
This approach drives the MHRA approach for patient centric regulation where existing structures may not support ongoing advances in innovation and personalisation of medical products.
By working closely with patients, partners and industry, we’re building a framework that supports innovation while maintaining the high standards of safety and trust that patients expect.
Helen Knight, Director of Medicines Evaluation at the National Institute for Health and Care Excellence, said
The MHRA’s proposed Rare Disease Therapies Regulatory Framework potentially complements NICE’s approach that enables NHS patients to receive innovative and promising medicines while additional evidence is gathered on how well they work in practice. These proposals could help to address clinical uncertainty, with the MHRA continuing stringent patient safety monitoring while NICE ensures value for money for the taxpayer.
We support the ambition to improve timely access to rare disease therapies and look forward to engaging in more detail alongside wider system partners to ensure this delivers safely for patients, value for the NHS and aligns with broader government policy objectives.
Former Prime Minister, Lord (David) Cameron, now Chair of the Oxford-Harrington Rare Disease Centre Advisory Council, said
I know all too well from my own experience caring for our dear son, Ivan, that for millions of patients living with rare diseases and their families, time matters. Too often patients and their loved-ones face years of uncertainty, worry and heartache, with few or no treatment options available to them.
Today’s announcement from the MHRA is an important and hopeful step towards changing that, while helping the UK become a powerhouse of drug development for genetic and rare diseases. By recognising the unique challenges of developing and delivering rare disease treatments to patients, and the need for an innovative, nimble and adaptable regulatory approach, the UK is showing real international leadership, building on the success of Genomics England and the 100k Genomes Project, both of which I launched as Prime Minister.
Through my work with the Oxford-Harrington Rare Disease Centre, we see every day the extraordinary potential of scientific innovation to transform lives. What patients and families need now is a system that can move with the same urgency as the science.
Have your say
The consultation is open to everyone – patients, families, carers, clinicians, researchers and members of the public. The MHRA wants to hear from the people who understand the reality of living with a rare disease, not just those working within the system.
Respond to the consultation (which closes on 20 July 2026).
The scale of the challenge
More than 3.5 million people in the UK – around one in 17 – live with a rare disease. Yet fewer than 5% of rare diseases currently have an approved treatment. The average diagnostic journey takes more than five years. Thirty per cent of children affected by rare diseases die before the age of five.
The conditions are extraordinarily varied. Some affect hundreds of people; others, just a handful. Inherited retinal dystrophies rob children and adults of their sight.
Angelman Syndrome – caused by a missing or faulty gene – means that many children will never speak. Variants in one of the body’s genes (called the DHDDS gene) cause a progressive neurological condition so rare that researchers are still piecing together its full picture. Ultra-rare cancers can strike with no targeted treatment available. Myotonic Dystrophy slowly steals muscle function, affecting not just movement but breathing and heart function.
What these conditions share is that the current system was not built for them.
Why change is needed
Developing therapies for rare diseases is genuinely hard. Patient numbers are small, scientific understanding is often limited, and the financial case for investment is weak. The regulatory rules that govern clinical trials and drug approvals were designed around common diseases – they assume large patient populations and the kind of definitive clinical trial data that is simply impossible to generate when a condition affects approximately one in 50,000 or fewer people.
The result is a system that, despite the best intentions of those working within it, leaves thousands of patients without a viable treatment.
The cost is not only human. Delayed diagnosis alone is estimated to cost £340 million annually. Health-related disability costs amount to a further £4.7 billion each year, with a £14.9 billion annual loss to the UK economy.
Stakeholder quotes
Nick Meade, Chief Executive of Genetic Alliance UK, said
For many rare condition communities, innovative treatment development has been out of reach. That’s changing with this programme, as more treatment paradigms are opened up and lower prevalence levels become more commercially viable. Now it’s time to make sure the detail is right, so that we can be sure the UK rare condition community can be the first to benefit from this welcome and ambitious undertaking.
Dr Jacqueline Barry, Chief Clinical Officer, Cell and Gene Therapy Catapult, said
For patients with rare diseases, regulatory timelines are not an abstract concern. They represent the difference between accessing a potentially life-changing therapy and not. The proposed framework responds to that directly.
The Investigational Marketing Authorisation has the potential to accelerate the development pathway for advanced therapies, enabling iterative, evidence-led progression that better reflects the science, while upholding the highest standards of safety, efficacy and quality. We welcome this consultation and strongly encourage developers across the advanced therapy sector to engage.
Sam Barrell, CEO of LifeArc, said
For families affected by rare diseases, time matters. But even when there’s real promise in the science, treatments can take far too long to reach them because the regulatory pathways were not designed with rare diseases in mind.
This consultation is a chance to design a better way forward one that enables therapies to reach patients faster without compromising safety. We’d encourage companies, researchers, clinicians and patient groups to get involved so the final framework reflects their expertise and experience.
Dr Rick Thompson, CEO of Beacon for rare diseases, said
There are millions of people in the UK living with a rare condition, struggling to secure research or treatment. This new regulatory framework has the chance to be transformative for rare diseases – inspiring more research and ensuring that more therapies have the chance to reach patients who need them.
I encourage all stakeholders to engage with the MHRA consultation. Together, we can help to ensure these transformative ideas are implemented in a manner that works for developers and underscores their importance to those affected by rare diseases.
Professor Claire Booth, Consultant Paediatric Immunologist at Great Ormond Street Hospital, said
This consultation is an important and hopeful step for families affected by rare diseases, where time and access to treatment are critical. Too often, patients face long diagnostic journeys with limited options, not because the science isn’t advancing, but because the system hasn’t kept pace.
Dr Harriet Holme, Drug Development Clinician at Weatherden and Executive Chair of PCD Research said
This proposed regulatory framework represents a transformative step forward for patients living with rare diseases. It maintains the UK’s high standards of safety while enabling earlier, more iterative development approaches to fundamentally shift the value inflection point for investment, and drive meaningful patient impact.
At the current pace of developing treatments one disease at a time, with programmes taking over a decade, it would take centuries to meet the unmet need across rare conditions. By supporting scalable, platform-based approaches and more flexible development pathways, the UK has a clear opportunity to strengthen its position as a global leader in rare disease innovation for millions of patients.
Notes to Editors
The Rare Disease Therapies Framework, which was announced in November 2025, will introduce a more flexible, risk-proportionate regulatory approach, enabling promising treatments to reach patients more quickly while maintaining the MHRA’s robust standards of safety, quality and efficacy.
This work would not have been possible without the support of the Rare Disease Consortium, which is made up of
- Patient and advocacy groups Genetic Alliance UK, Beacon, Unique, Mila’s Miracle Foundation
- Academia and research University of Oxford, Newcastle University (Rare Diseases Research UK), Great Ormond Street Hospital, UC Berkeley (Innovative Genomics Institute)
- Industry LifeArc, Catapult Cell and Gene Therapy, AstraZeneca (Alexion), Biogen, Alnylam, Ipsen, Mereo BioPharma, BioIndustry Association, Association of the British Pharmaceutical Industry, Weatherden, Vertex, BioMarin, Syncona, UCB. Additional contributors include the Rare Therapies Launchpad.
- Government / regulators Medicines and Healthcare products Regulatory Agency, Health Research Authority, National Institute for Health and Care Excellence, Department of Health and Social Care, NHS England
The Medicines and Healthcare products Regulatory Agency (MHRA) is responsible for regulating all medicines and medical devices in the UK by ensuring they work and are acceptably safe. All our work is underpinned by robust and fact-based judgments to ensure that the benefits justify any risks.
The MHRA is an executive agency of the Department of Health and Social Care.
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