Draft rare disease therapies regulatory framework

Rare diseases affect more than 3.5 million people in the UK, but only a small proportion have an approved medicinal treatment. Many rare conditions face unique scientific and practical challenges: extremely small patient populations, limited natural history data, difficulties conducting randomised controlled trials, and in some cases, individual‑ or family‑specific genetic variants. These factors make traditional regulatory routes difficult or impossible to use.

The rare disease therapies framework aims to address these challenges by introducing a single, flexible authorisation, the Investigational Marketing Authorisation (IMA), which would allow controlled early access to a therapy while further clinical and real‑world evidence continues to be generated. The draft guideline outlines a clear regulatory path covering eligibility for the route, evidence requirements, patient engagement expectations, lifecycle oversight, and the process for transitioning to a full Marketing Authorisation where appropriate. Our aim is to enable timely patient access to promising therapies for very rare diseases while maintaining stringent safety, quality and efficacy standards.

This novel pathway also places significant emphasis on patient engagement and communication, ensuring that people affected by rare diseases are involved throughout development and that informed consent is an ongoing, not one‑off, process. The guidance also explains expectations around adaptive clinical trial approaches, real‑world data, prior knowledge, and predictive modelling – tools that may be essential for generating meaningful evidence in very small or highly heterogeneous populations.

We are seeking feedback from manufacturers, developers, clinicians, researchers, patient organisations, carers, families and other stakeholders on our regulatory approach to rare disease therapies. To ensure that patients, carers and the wider public receive clear and balanced information about these treatments, we particularly welcome feedback on the sections addressing patient communication, ongoing consent, and support for decision‑making.