Development of treatments for rare diseases to be accelerated under UK reforms

The UK government has committed to accelerating the development and approval of treatments for rare diseases, through major reforms to current regulation.

A 'bold new rulebook for rare therapies is being written', according the Medicines and Healthcare products Regulatory Agency (MHRA), which controls approval processes for new medicines in the UK. As outlined in a newly published policy paper, the MHRA plans to reduce obstacles which impede the development of rare disease therapies, by making evidence requirements more flexible, streamlining licensing pathways and facilitating data sharing between institutions.

'The UK has the ingredients to be a global leader in rare disease therapies, with a rich academic base, a single provider of genomics and the unique, diverse datasets of the NHS,' said Julian Beach, executive director of healthcare quality and access at the MHRA. 'There is still more work to be done, but I hope this paper reassures all those affected by rare disease that we are listening and are prepared to take bold action to speed the path from discovery to delivery, while maintaining strict standards of safety.'

The proposed changes target medicinal products intended to treat rare diseases, defined as conditions with a prevalence of five in 10,000 people or less. In the UK, one in 17 people are affected by a rare disease (including patients and carers), with 30 percent of affected children dying before the age of five.

Currently, approved medicines are available for only five percent of rare diseases. Developing therapies for rare diseases is particularly challenging due to small, heterogeneous patient populations, which may be geographically dispersed, making large-scale randomised controlled trials infeasible. A lack of real-world patient data means that scientific understanding of rare conditions may be limited, and there may not be validated 'endpoints' for clinical trials, which are measurable outcomes needed to evaluate the effectiveness or safety of a treatment.

The policy reforms aim to tackle these obstacles by pooling scarce datasets from UK and international research centres, and allowing greater flexibility in clinical trial design for rare diseases. For example, real-world data may be considered an acceptable comparator when randomised controlled trials are not practical or feasible. Surrogate endpoints – a substitute for a direct measure – may be used in clinical trials in place of validated endpoints, allowing trials to proceed more efficiently. Safeguards will be put in place to ensure that evidence remains robust, including regular monitoring of patient outcomes and safety concerns after a treatment has been marketed.

'Advancing regulatory approaches for rare diseases is essential to ensure that patients with the greatest unmet need can access innovative treatments without unnecessary delay,' said Dr Jacqueline Barry, chief clinical officer of independent organisation Cell and Gene Therapy Catapult.

Highly individualised treatments, such as CRISPR genome editing, are also considered in the MHRA's reform plans, including a 'more flexible licensing approach' that enables a single marketing authorisation to be granted for a therapy, even if it includes a variable component tailored to an individual's characteristics. This marks another move towards facilitating access to personalised medicines, after the UK introduced a law that enables personalised medicines to be manufactured at the point of care earlier this year, becoming the first country to do so (see BioNews 1299).

'Too often, patients have been left feeling isolated and unseen by the health system,' said Dr Rick Thompson, chief executive officer of Beacon, a UK-based rare disease charity. 'The creation of regulatory pathways tailored to the unique challenges posed by rare diseases… is something we have hoped to see for many years.'

The question of how to improve diagnosis, treatment and support for people affected by rare and inherited metabolic diseases will be explored at this week's free-to-attend PET event Rare Metabolic Diseases: Advancing Understanding, Improving Outcomes.

The event is taking place online this coming Wednesday (12 November 2025). Find out more and register here.