The Medicines and Healthcare products Regulatory Agency (MHRA) has today launched a public consultation on a proposed new Rare Disease Therapies Framework that would introduce significant regulatory innovation to the UK’s rare disease landscape – and the MHRA is calling on the pharmaceutical and life sciences industries to play a central role in shaping the final framework.
The draft framework sets out a technology-agnostic regulatory framework designed to address the fundamental scientific, evidentiary and commercial barriers that prevent rare disease therapies from reaching patients under conventional development models.
It is designed for therapies targeting rare diseases with a prevalence of typically one in approximately 50,000 or fewer in the UK, where there are clear and measurable barriers to conventional development.
The consultation runs until 30 July and industry input is critical to enable earlier access to potentially life-saving therapies for rare diseases.
Why industry input matters
The MHRA is clear that the detail of this framework must be shaped by those who will use it. The consultation provides a direct opportunity for pharmaceutical companies, biotech developers, contract research organisations, academics, and clinicians to influence the final guidance – including the eligibility criteria for an Investigational Marketing Authorisation (IMA) designation, the approach to real-world evidence generation, scientific advice processes, and the interface with existing routes such as orphan designation and the Innovative Licensing and Access Pathway (ILAP).
The framework has been developed with input from the Rare Disease Consortium – a cross-sector group including the Medicines and Healthcare products Regulatory Agency (MHRA), the Health Research Authority (HRA), the National Institute for Health and Care Excellence (NICE), the Department of Health and Social Care (DHSC), NHS England, patient advocacy organisations, academia, and industry partners. The consultation now opens the process for wider input.
Respond to the consultation
Draft rare disease therapies regulatory framework
Early engagement meetings with the MHRA will be encouraged. The MHRA will be arranging a series of general sessions over the summer whilst the consultation is underway and responses are being considered. For more information, please contact our Customer Experience Centre.
A new model for rare disease development
Traditional rare disease programmes typically take 10–12 years to reach marketing authorisation, driven by linear phase progression and traditionally limited opportunities for early regulatory involvement. The proposed framework is designed to compress these timelines meaningfully, particularly in early phases and during regulatory decision-making.
At the heart of the proposal is a new IMA – a single authorisation that would combine clinical trial approval with a progressive route to marketing authorisation. Rather than requiring sponsors to transition from clinical trial approval to marketing authorisation as separate regulatory steps, the IMA provides a coherent lifecycle that supports rolling data submissions, modular assessments, and earlier patient access where there is limited but compelling evidence, supported by structured post-authorisation evidence generation for safety, quality and efficacy.
The guidance explicitly supports adaptive and innovative trial designs – including basket trials, umbrella trials, and hybrid designs incorporating real-world evidence – and accepts that surrogate or patient-relevant endpoints may be appropriate where conventional endpoints are not feasible. It also sets out the MHRA’s openness to the use of computational modelling, digital twins, and non-animal methods where scientifically justified.
For larger pharmaceutical companies, the guidance creates new opportunities to diversify into very rare indications with more iterative investment strategies and a more predictable regulatory environment. For smaller developers and academics, it provides earlier regulatory certainty and structured scientific advice from the outset.
The UK’s competitive position
The UK has the foundations to be a global leader in rare disease innovation a strong academic base, a single national genomics provider, and the unique scale and diversity of NHS datasets.
The new guidance is designed to utilise these strengths within a coherent enabling framework, positioning the UK as the destination of choice for rare disease therapy development and clinical trials, while safeguarding patients and maintaining confidence in regulatory decision-making.
The framework is technology-agnostic and applicable across advanced therapy medicinal products (ATMPs), individualised medicines, gene-based therapies, digital-enabled medicinal products, innovative manufacturing platforms and includes repurposed medicines.
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 development.
For developers, the guidance provides a more streamlined and efficient process. A single authorisation removes the need for a discrete transition from clinical trial approval to marketing authorisation, supports more predictable and adaptable evidence requirements, and allows for rolling data submissions to accelerate decision-making. It also promotes better alignment between clinical development, regulatory approval, patient access, and reimbursement processes, thereby reducing complexity.
By working closely with patients, partners and industry, we’re building a framework that supports innovation while maintaining the high standards of safety that patients expect.
Industry feedback is vital to this consultation, so please share your views at Draft rare disease therapies regulatory framework
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 compliments 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.
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.
ENDS
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, BIA, ABPI, Weatherden, Vertex, BioMarin, Syncona, UCB. Additional contributors include the Rare Therapies Launchpad.
- Government / regulators Medicines and Healthcare products Regulatory Agency, National Institute for Health and Care Excellence, Department for 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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