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The Medicines and Healthcare products Regulatory Agency (MHRA) has today launched aÌýpublic consultationÌýon a proposed new Rare Disease TherapiesÌýFrameworkÌýthat would introduce significant regulatory innovation to the UK’s rare disease landscapeÌý–Ìýand theÌýMHRAÌýis calling on the pharmaceutical and life sciences industries to play a central role in shaping the final framework.Ìý

The draftÌýframeworkÌýsets out a technology-agnostic regulatory framework designed to address the fundamental scientific,ÌýevidentiaryÌýand commercial barriers that prevent rare disease therapies from reaching patients under conventional development models.ÌýÌý

It is designed for therapies targeting rare diseases with a prevalence of typicallyÌýone in approximately 50,000 orÌýfewerÌýin the UK, where there are clear and measurable barriers to conventional development.ÌýÌý

TheÌýconsultationÌýruns untilÌý30ÌýJulyÌýand industry input isÌýcriticalÌýtoÌýenable earlier access to potentially life-saving therapies for rare diseases.Ìý

Why industry input mattersÌý

The MHRA is clear that the detail of this framework must be shaped by those who will use it. TheÌýconsultationÌýprovides a direct opportunity for pharmaceutical companies, biotech developers, contract research organisations, academics, and clinicians to influence the final guidance – including the eligibility criteria forÌýanÌýInvestigationalÌýMarketingÌýAuthorisation (IMA)Ìýdesignation, 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).Ìý

The framework has been developed with input from the Rare Disease Consortium – a cross-sector group includingÌýtheÌýMedicines and Healthcare products Regulatory Agency (MHRA), theÌýHealthÌýResearchÌýAuthority (HRA),ÌýtheÌýNational Institute for Health and Care Excellence (NICE),ÌýtheÌýDepartment of Health and Social Care (DHSC), NHS England, patient advocacyÌýorganisations, academia, and industry partners. TheÌýconsultationÌýnowÌýopensÌýthe processÌýforÌýwiderÌýinput.Ìý

Respond to theÌýconsultation:ÌýÌý

Draft rare disease therapies regulatory frameworkÌý

Early engagement meetings with the MHRAÌýwill beÌýencouraged.ÌýThe MHRA will be arrangingÌýa series ofÌýgeneralÌýsessions over the summer whilst the consultation is underway andÌýresponses are being considered.ÌýFor more information, please contactÌýourÌýCustomerÌýExperience Centre.Ìý

A new model for rare disease developmentÌý

Traditional rare disease programmes typicallyÌýtakeÌý10–12 years to reach marketing authorisation, driven by linear phase progression andÌýtraditionally limited opportunities forÌýearlyÌýregulatoryÌýinvolvement. The proposed framework is designed to compress these timelines meaningfully, particularly in early phases and during regulatory decision-making.Ìý

At the heart of the proposal is a newÌýIMAÌý–Ìýa single authorisation that would combine clinical trial approval withÌýa progressiveÌýroute 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 generationÌýfor safety, quality and efficacy.Ìý

The guidance explicitly supports adaptive and innovative trial designsÌý–Ìýincluding basket trials, umbrella trials, and hybrid designs incorporating real-world evidenceÌý–Ìýand accepts that surrogate or patient-relevant endpoints may beÌýappropriate whereÌýconventional endpoints are notÌýfeasible. It also sets outÌýtheÌýMHRA’s openness to the use of computational modelling, digital twins, and non-animal methods where scientifically justified.Ìý

For larger pharmaceutical companies, the guidance creates new opportunities to diversify intoÌývery rareÌýindications 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.Ìý

The UK’s competitive positionÌý

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.Ìý

The new guidance is designed toÌýutiliseÌýthese strengths within a coherent enabling framework, positioning the UK as the destination of choice for rare disease therapy development and clinical trials,Ìýwhile safeguarding patients andÌýmaintainingÌýconfidence in regulatory decision-making.Ìý

The framework is technology-agnostic and applicable across advanced therapy medicinal products (ATMPs), individualised medicines, gene-based therapies, digital-enabled medicinalÌýproducts,ÌýinnovativeÌýmanufacturing platformsÌýand includes repurposed medicines.ÌýÌý

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,ÌýexhaustingÌýand deeply uncertain.Ìý

These landmark proposalsÌýrepresentÌýan important stepÌýtowards a more agile and compassionate system - one that recognises the unique challenges of rare disease research whileÌýmaintainingÌýthe highest standards of patient safety.Ìý

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.Ìý

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:Ìý

Patients living with rare diseases often face significant barriers in accessing effective treatments. ThisÌýconsultationÌýmarksÌýan important stepÌýtowards a more flexible and responsive regulatory system that reflects the challenges and realities of rare disease development.Ìý

For developers, the guidance provides a more streamlined and efficient process. A single authorisation removes the need forÌýa discreteÌýtransition 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.ÌýÌýÌý

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.Ìý

Industry feedback is vital to thisÌýconsultation,Ìýso please share your viewsÌýat Draft rare disease therapies regulatory frameworkÌý

HelenÌýKnight, Director of Medicines Evaluation atÌýtheÌýNationalÌýInstitute for Health and Care Excellence, said:ÌýÌý

The MHRA’s proposed Rare Disease Therapies Regulatory Framework potentially compliments NICE’s approach that enables NHS patients to receive innovative and promising medicines whileÌýadditionalÌýevidence 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.Ìý

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:  Ìý

For many rare condition communities, innovative treatment development has been out of reach.ÌýThat’sÌýchanging with this programme, as more treatment paradigms areÌýopened upÌýand lower prevalence levels become more commerciallyÌýviable. NowÌýit’sÌýtime to make sure the detail is right, so that we can be sure the UK rare condition community can be the first toÌýbenefitÌýfrom this welcome and ambitious undertaking.

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

For patients with rare diseases, regulatory timelines are not an abstract concern. TheyÌýrepresentÌýthe 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,ÌýefficacyÌýand quality. We welcome this consultation and strongly encourage developers across the advanced therapy sector to engage.

Sam Barrell, CEO ofÌýLifeArc, said:Ìý

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.ÌýÌý

This consultation is a chance to design a better way forward: one that enables therapies to reach patients faster without compromising safety.ÌýWe’dÌýencourage companies, researchers,ÌýcliniciansÌýand patient groups to get involved so the final framework reflects theirÌýexpertiseÌýand experience.

Dr Rick Thompson, CEO of BeaconÌýfor rare diseases, said:Ìý

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:ÌýÌý

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 scienceÌýisn’tÌýadvancing, but because the systemÌýhasn’tÌýkept pace.

Dr Harriet Holme,ÌýDrug Development Clinician atÌýWeatherdenÌýandÌýExecutive Chair of PCD ResearchÌýsaid: Ìý

This proposed regulatory frameworkÌýrepresentsÌýa transformative step forward for patients living with rare diseases. ItÌýmaintainsÌýthe UK’sÌýhigh standardsÌýof safety while enabling earlier, more iterative development approaches to fundamentally shift the value inflection point forÌýinvestment, andÌýdrive meaningful patient impact.Ìý

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 EditorsÌý

The Rare Disease TherapiesÌýFramework, which wasÌýannounced in November 2025, will introduce a more flexible, risk-proportionate regulatory approach, enabling promising treatments to reach patients more quickly whileÌýmaintainingÌýthe MHRA’s robust standards of safety,ÌýqualityÌýand efficacy.ÌýÌýÌý

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

• Patient and advocacy groups:ÌýGenetic Alliance UK, Beacon, Unique, Mila’s Miracle FoundationÌý
• Academia and research:ÌýUniversity of Oxford, Newcastle University (Rare Diseases Research UK), Great Ormond Street Hospital, UC Berkeley (Innovative Genomics Institute)Ìý
• Industry:ÌýLifeArc, Catapult Cell and Gene Therapy, AstraZeneca (Alexion), Biogen, Alnylam, Ipsen, Mereo BioPharma, BIA, ABPI,ÌýWeatherden, Vertex, BioMarin,ÌýSyncona, UCB.ÌýAdditionalÌýcontributors include the Rare Therapies Launchpad.Ìý
• Government / regulators:ÌýMedicines andÌýHealthcare productsÌýRegulatoryÌýAgency, NationalÌýInstitute forÌýHealthÌýandÌýCareÌýExcellence, Department forÌýHealth andÌýSocialÌýCare, NHS EnglandÌý

The Medicines and Healthcare products Regulatory Agency (MHRA)Ìýis responsible forÌýregulating 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.ÌýÌý

The MHRA is an executive agency of the Department of Health and Social Care.Ìý

For the MHRA Customer Experience Centre, please contactÌýinfo@mhra.gov.ukÌý

For media enquiries, please contactÌýnewscentre@mhra.gov.ukÌýor call 020 3080 7651.