On 21 May 2026, the Medicines and Healthcare products Regulatory Agency opened a public consultation on a draft Rare Disease Therapies Regulatory Framework. According to the Department of Health and Social Care announcement, the proposal is intended to create a workable approval route for treatments aimed at extremely small patient groups, while keeping the regulator’s existing safety duties in place. The policy issue is long-standing. Rare diseases collectively affect around 3.5 million people in the UK, roughly one in 17 people, yet the current licensing model was largely built around conditions with far larger trial populations and stronger commercial incentives. The consultation takes forward plans first signalled by the MHRA in November 2025.
Under the draft, the pathway would be limited to conditions affecting no more than 1 in 50,000 people and only where there are measurable barriers to running a standard clinical trial. Entry would also depend on factors such as disease severity and unmet clinical need. In practical terms, the MHRA is not proposing a general relaxation of medicines regulation. It is proposing a narrower, risk-proportionate route for cases where the evidence model has to reflect the size and nature of the patient population. That is a material distinction, because it frames the scheme as a targeted exception rather than a lower bar across the board.
The main structural change is a proposed Investigational Marketing Authorisation. As described by the MHRA, this would combine trial approval with a staged route towards market authorisation, rather than keeping those steps wholly separate. For patients and developers, the significance is timing. A treatment with limited but credible evidence could reach some patients earlier, while additional evidence is gathered through structured monitoring. For the regulator, that earlier access would have to be matched by tighter surveillance, defined conditions of use and a clear plan for follow-up data on safety, quality and benefit.
NICE’s role remains central. Helen Knight, NICE’s Director of Medicines Evaluation, said the model could complement NICE’s existing approach to managed access, where promising medicines are used while further evidence is collected. That matters because MHRA approval and NHS use are not the same decision. MHRA authorisation addresses regulatory standards for medicines, while NICE still has to judge clinical and cost effectiveness for the NHS. In policy terms, the proposal is therefore not simply a licensing reform; it is an attempt to bring regulation, health technology assessment and NHS adoption into closer alignment for very small patient populations.
The case for change rests on the scale of unmet need set out in the government announcement. Fewer than 5% of rare diseases have an approved treatment, the average diagnostic journey is more than five years, and 30% of children affected by a rare disease die before the age of five. The same material estimates annual costs of £340 million from delayed diagnosis, £4.7 billion in health-related disability costs and £14.9 billion in wider economic loss. The government material also points to a wide clinical spread, from inherited retinal dystrophies and Angelman syndrome to ultra-rare cancers and myotonic dystrophy. Where a disease affects only a few hundred people, or fewer, the standard expectation of large and definitive trials can become the barrier rather than the safeguard.
The framework has been developed with the Rare Disease Consortium, bringing together patient groups, researchers, industry bodies, NHS organisations and regulators. The membership listed by the MHRA includes Genetic Alliance UK, Great Ormond Street Hospital, the Cell and Gene Therapy Catapult, NHS England, NICE and the Department of Health and Social Care. That collaborative design process is important because the consultation is not only about principle. The detailed rules on eligibility, evidence thresholds, manufacturing quality, follow-up obligations and patient monitoring will determine whether the final model is workable for clinicians and companies without shifting too much uncertainty on to families and frontline services.
Ministers are also linking the proposal to wider life sciences policy. Public Health Minister Sharon Hodgson presented it as a more responsive system that could shorten the route to treatment while maintaining patient safety. Julian Beach, the MHRA’s Executive Director of Healthcare Quality and Access, made a similar case, arguing that existing structures do not always fit highly targeted therapies developed for very small populations. External organisations broadly welcomed the direction of travel. Genetic Alliance UK, LifeArc, Beacon for Rare Diseases, the Cell and Gene Therapy Catapult and clinical voices from Great Ormond Street Hospital all argued that the present framework has been too slow for low-prevalence conditions. Their support, however, is qualified by the same point: faster access must still rest on transparent evidence rules and credible oversight.
The consultation is open until 20 July 2026 and the MHRA is seeking responses from patients, carers, clinicians, researchers and the wider public. For those groups, the immediate question is how much uncertainty the system should accept at the point of first access, and what safeguards should apply afterwards. If adopted, the framework could reduce development costs and make the UK a more usable market for rare disease and advanced therapy developers. The harder test will come after consultation, when ministers and regulators have to show that earlier access can be delivered without weakening evidential discipline, and that NICE and the NHS are equipped to manage staged adoption in conditions where every patient cohort is small and every data point carries unusual weight.