Major change for rare disease treatments on way, signals MHRA
Source: gov.uk (2025-11-02)

New paper sets out UK regulator's intentions to overhaul rulebook for rare disease therapies in UK

New paper published today commits UK to major reform in rare therapies

Bold new rulebook for rare therapies is being written, for publication next year

≈3.5 million people in UK affected by rare disease but only 5% of rare diseases have approved treatment

MHRA reforms will speed up path for rare therapies from discovery to delivery

The rulebook for rare disease therapies will be overhauled to make it quicker and easier to get these therapies tested, manufactured and approved in the UK, the Medicines and Healthcare products Regulatory Agency (MHRA) has announced in a new paper published today (https://www.gov.uk/government/publications/rare-therapies-and-uk-regulatory-considerations) supporting the ambitions of the Government’s life sciences strategy.

Central to this reform will be tackling the unique barriers that currently prevent life-changing rare disease therapies from reaching patients, like small patient numbers and difficult evidence generation, while maintaining safety.

Around 3.5 million people in the UK – one in 17 – live with a rare disease, equivalent to one child in every classroom. When carers are included, this community is larger than the population of London.

Yet fewer than 5% of rare diseases currently have an approved treatment. The average diagnostic journey takes 5.6 years, and 30% of affected children die before the age of five.

The cost of delayed diagnosis and limited treatment options is estimated at £340 million annually, with a further £4.7 billion in health-related disability costs and a £14.9 billion annual loss to the economy.

The paper published today sets out how the MHRA is thinking to change this. It commits the UK to major reform and is a huge signal that significant change for rare disease patients is on its way.

Supporting the development of the reforms is a newly formed Rare Disease Consortium (#eel-decline), which includes patients and their representatives, academics and industry.

Julian Beach, MHRA Executive Director, Healthcare Quality and Access, said:

The UK has the ingredients to be a global leader in rare disease therapies, with a rich academic base, a single provider of genomics and the unique, diverse datasets of the NHS. The challenge is bringing all these elements together, which our new framework will do.

There is still more work to be done, but I hope this paper reassures all those affected by rare disease that we are listening and are prepared to take bold action to speed the path from discovery to delivery, while maintaining strict standards of safety.

I would like to say a massive thank you to all those who have helped us get here today. This could not have been done without the collaboration from all.

It is more challenging to develop a therapy for a rare disease than for a more common disease like diabetes or hypertension. With small, scattered patient groups and limited scientific understanding of the condition, recruiting participants and conducting clinical trials can be difficult and expensive, making it much harder to gather the evidence needed to prove that a treatment works. This also reduces the financial incentive for companies to invest.

Advances in science and technology are now enabling highly individualised treatments, even for relatively common rare diseases that affect several thousand people in the UK. Gene-based therapies such as CRISPR or mRNA can be tailored to target specific patient subgroups. In the case of CRISPR, a treatment may even be designed for a single individual based on their unique genetic profile, despite many others sharing the same condition.

Currently, each new rare therapy requires a separate route through regulatory approval, including an approval to get the clinical trial set up and then an approval to be marketed in the UK (known as a marketing authorisation or licence). This approach is costly and inefficient, making it unviable to develop multiple highly targeted treatments.

While the framework won’t be published in full until next year, the paper today outlines some bold ideas, including whether an early, single approval could be issued for both a clinical trial application and marketing authorisation based on compelling but limited evidence. This approval would be granted with a strict safety monitoring plan with real-world evidence review at a set frequency.

The paper also sets out:

how to better share evidence in the UK and globally to pool scarce data

Whether a single approval could be issued for a therapy, even where there is a variable component tailored to an individual’s characteristics

the importance of strengthened post-market surveillance

better health system alignment in the UK and internationally

This work supports the Government’s Rare Disease Action Plan, (https://www.gov.uk/government/publications/england-rare-diseases-action-plan-2025) as well as the long-term plans for the NHS and life sciences sector.

Nick Meade, Chief Executive of Genetic Alliance UK, said:

For too many families, a rare diagnosis comes without a viable cure or treatment. This programme is a vital step towards changing that. Fostering the development of treatments here in the UK will bring direct benefits for people living with rare conditions.

We welcome this clear signal of the UK’s commitment to becoming a world leader in rare condition therapy development, and our community of rare condition organisations stands ready to lend its expertise to make it a success.

Dr Rick Thompson, CEO of Beacon: for rare diseases, said:

It has long been clear to our community of rare disease patient groups and charities that the UK has all of the ingredients to become a true leader in rare disease science and care provision; however, too often patients have been left feeling isolated and unseen by the health system.

This paper from the MHRA provides hope that a real shift in the UKs approach to caring for the millions affected by rare diseases is possible. The creation of regulatory pathways tailored to the unique challenges posed by rare diseases, and a pragmatic approach to collection of data in the real world is something we have hoped to see for many years. Beacon is excited to see what develops in the coming year, and committed to supporting the rare disease patient community to engage with this important work however possible.

Dr Jacqeline Barry, Chief Clinical Officer, Cell and Gene Therapy Catapult, said:

Advancing regulatory approaches for rare diseases is essential to ensure that patients with the greatest unmet need can access innovative treatments without unnecessary delay.

Through this initiative, the MHRA aims to create flexible, science-led regulatory pathways that speed up clinical trials and product approvals for rare disease therapies, while upholding the highest standards of safety, efficacy, and quality.

These efforts have the potential not only to transform patients’ lives, but also to reduce the long-term burden on the NHS.

Sam Barrell, CEO of LifeArc, said:

For people living with rare diseases, every moment counts – they need action now. This is the message I hear time and again when speaking with families.

That’s why we welcome today’s announcement, which aims to tackle some of the key challenges holding back new treatments reaching people who need them. If we seize this opportunity and position the UK as a hub for innovative research in rare diseases, the breakthroughs we achieve could also revolutionise care for more common conditions.

Dr Harriet Holme, Founder and Executive Chair of PCD Research:

Rare diseases place a profound toll on patients and their families, bringing years of uncertainty, financial strain, and lost opportunities for children and adults alike. The figures are stark, the cost of inaction is estimated at £33 billion every year, but behind this are families navigating uncertainty and patients waiting too long for hope.

Significant advances in genomics, AI, and genetic treatments such as mRNA and CRISPR now offer unprecedented potential to transform outcomes for patients. The successful treatment of Baby KJ with the first on-demand CRISPR therapy shows what is possible, but barriers remain to delivering this type of transformational treatment at pace and scale.

That’s why today’s MHRA announcement is so important. By committing to change the UK’s regulatory framework for rare disease therapies, the MHRA is laying the foundation for crucial steps towards ensuring that innovation can safely reach patients faster.

By building on the ambitions of the Life Sciences Sector Plan to embed genomics in healthcare, integrating national datasets through the Wellcome NHRS, and aligning with updated regulation, we have a unique opportunity to deliver truly life-changing outcomes for patients. These reforms have the power to make the UK a global leader in rare disease innovation, driving inbound investment, transforming lives and ensuring that no patient is left behind simply because their disease is rare.

Notes to Editors:

This work would not have been possible without the support of the Rare Disease Consortium, which is made up of:

Government / regulators: MHRA, NICE, DHSC, NHS England

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, BIA, ABPI, Weatherden, Vertex, BioMarin, Syncona, UCB .

Additional contributors include the Rare Therapies Launchpad.

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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