UK clinical trials update: where are we now and promise for rare diseases

At the recent Westminster Health Forum conference on rare diseases, Stephanie Caird reflected on the evolving clinical trials landscape in the UK and how this could affect the future of research into rare diseases and the unique challenges these bring with them. 

Areas of emphasis included patient recruitment, ethical considerations and the currently fragmented data landscape faced by researchers. 

A New Era for Clinical Trials Regulation

We highlighted the series of proposed reforms in our January blog, and The Medicines for Human Use (Clinical Trials) (Amendment) Regulations 2024 which has since been passed, represents the most significant overhaul of UK clinical trials legislation in two decades. Currently in a 12-month implementation period, the amended regulations are expected to come into force on 28 April 2026. Their objectives are ambitious: to place patient safety at the heart of clinical research, streamline regulatory processes, and support innovation across the life sciences sector.

For rare diseases, where patient populations are small and often geographically dispersed, these reforms could be transformative. Some of the key parts of the new framework which have potential for significant positive impact include:

• Streamlined approvals: Ethics and regulatory reviews will now run in parallel, reducing delays and administrative burden.
• Proportionate consent processes: Especially relevant for low-risk medicines or already approved medicines being used for new purposes, this change could ease participation for patients and families.
• Greater transparency: Sponsors will be required to register trials on WHO-recognised platforms and publish results within 12 months.
• Targeted regulatory action: Regulators will be empowered to intervene in specific components of a trial, rather than halting entire studies which will be particularly suited to complex or adaptive trial designs.
• International alignment: By adhering to ICH GCP guidelines, UK trials will be more readily accepted by global regulators, supporting multi-regional collaboration.

Rare Disease Trials: Persistent Challenges

Despite these positive developments, rare disease trials continue to face structural hurdles. As highlighted in the England Rare Disease Action Plan 2025, recruitment remains a major barrier. Even when a patient cohort is identified, eligibility criteria, willingness to participate, and paediatric-specific considerations can all limit enrolment.

Moreover, the logistics of trial design, especially for paediatric populations, are often more complex and costly in the rare disease space. Sponsors must navigate ethical frameworks, ensure accessibility, and meet stringent data requirements. These factors, together with the existing challenges arising from a relatively small market size, can deter investment; although the number of rare disease trials is growing, with over 16,000 studies launched globally between 2018 and 2023.

Data and Access: The Next Frontier

Data remains both a challenge and an opportunity. While the UK has made significant strides in screening and data collection, fragmentation persists. Registries, specialist datasets, and secure data environments (SDEs) often lack interoperability. Greater alignment and international data sharing will be essential to maximise the value of rare disease data.

Emerging technologies such as synthetic datasets and digital twins offer promise for trial modelling, cost reduction, and patient burden minimisation. However, these tools are only as effective as the real-world data underpinning them.

Access to information is another critical issue. Patients and families often rely on clinicians or their own research to identify trial opportunities. We highlighted some of the resources available to the public interested in participating in clinical trials here, but  improving public awareness and transparency will continue to be important. 

Conclusion

Together with initiatives such as the Innovative Licensing and Access Pathway, the Early Access to Medicines Scheme, and the Innovative Medicines Fund the UK’s renewed focus on flexibility, transparency, and innovation in clinical trials regulation (hopefully) marks a pivotal moment for research in the UK, and for rare disease research in particular. This regulatory streamlining is backed up by active government support through initiatives such as the 10 Year Health Plan and the VPAG Investment Programme. With the right infrastructure, collaboration, and patient engagement, these reforms have the potential to transform the research landscape and make the UK a global leader in delivering hope and solutions to those living with rare conditions.

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