UK Rare-Disease Consultation Closes as Regulators Consider Earlier Access to Experimental Therapies

LONDON — A public consultation on a proposed new regulatory framework for rare-disease treatments closes today, with the UK medicines regulator considering a more flexible route for therapies that cannot be developed through conventional large clinical trials.

More than 3.5 million people in the UK live with a rare disease, but fewer than 5% of rare conditions have an approved treatment. Small and geographically dispersed patient populations can make conventional randomised trials difficult, costly or scientifically impractical.

The Medicines and Healthcare products Regulatory Agency proposes introducing an Investigational Marketing Authorisation, or IMA. This would combine clinical-trial approval with a progressive route towards full marketing authorisation.

Under the proposal, patients could receive controlled access to a promising treatment where the available evidence is limited but compelling. Developers would continue submitting clinical and real-world information, while safety, quality and effectiveness were reviewed at predefined stages.

The framework is intended mainly for diseases affecting approximately one person in 50,000 or fewer where clearly measurable barriers prevent conventional development. Severity, unmet medical need and the feasibility of standard trials would be considered when deciding whether a therapy qualifies.

The proposal supports adaptive clinical trials, real-world evidence, surrogate outcomes and predictive modelling where conventional approaches are not feasible. These methods could be particularly important for gene or cell treatments created for very small groups or even individual patients.

Earlier access, however, carries significant responsibilities. Patients and families must receive clear information about uncertainty, possible risks and the limits of existing evidence. Consent would need to be ongoing rather than treated as a single form signed at the beginning of treatment.

The MHRA would also require strong post-authorisation monitoring. A treatment made available early could face additional restrictions or withdrawal if later evidence showed that risks outweighed benefits.

Regulatory permission would not automatically guarantee routine NHS funding. Decisions about clinical value, affordability and NHS use would still involve NICE and other health-system bodies.

Some parts of the proposed system can be introduced through guidance, while full implementation of the IMA may require legislative change. The responses received during the consultation will inform the final framework.