Agency’s proposal for a new model for rare disease therapy development in the UK compresses pathways, potentially enabling faster patient access.
Following its initial announcement in November 2025, the Medicines and Healthcare products Regulatory Agency (MHRA) is seeking feedback from the pharmaceutical industry on its draft Rare Disease Therapies Framework. It outlines a flexible, risk-proportionate approach that is designed to shorten timelines and reduce costs for developing rare disease therapies.
The technology-agnostic regulatory framework is intended to address the key barriers preventing rare disease therapies from reaching patients under conventional models.
Rather than requiring developers to meet standards designed for large-population diseases, the new guidelines are relevant to therapies targeting rare diseases with typically one in approximately 50,000 or fewer patients in the UK, where measurable barriers to conducting a typical clinical trial exist. This includes advanced therapy medicinal products (ATMPs), personalised medicines and gene-based therapies.
As such, the guidance supports adaptive and innovative trial designs and accepts that surrogate or patient-relevant endpoints may be appropriate where conventional endpoints are not feasible.
New investigational marketing authorisation (IMA)
The main change is introduction of a new investigational marketing authorisation (IMA) — a single authorisation combining clinical trial approval with a progressive route to marketing authorisation. This includes rolling data submissions, modular assessments and earlier access for patients, even where evidence for the therapy is limited but compelling. Structured post-authorisation evidence generation would also follow.
Dr Jacqueline Barry, Chief Clinical Officer, Cell and Gene Therapy Catapult, said: “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.”
“The Investigational Marketing Authorisation has the potential to accelerate the development pathway for advanced therapies…We welcome this consultation and strongly encourage developers across the advanced therapy sector to engage”
MHRA’s guidelines covers criteria including 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 draft guidance is open to computational modelling, digital twins, and non-animal methods, where scientifically justified.
The agency noted that the framework provides opportunity for larger pharmaceutical companies to diversify into very rare indications with more iterative investment strategies and a more predictable regulatory environment. Smaller developers and academics are afforded earlier regulatory certainty and structured scientific advice.
Julian Beach, Executive Director of Healthcare Quality and Access at the MHRA, said: “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.”
MHRA’s public consultation on the proposed framework is open until 30 July.
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