The Medicines and Healthcare products Regulatory Agency (MHRA) has published a new framework signalling a significant overhaul of how rare disease treatments are tested, approved, and delivered in the UK
The Medicines and Healthcare products Regulatory Agency (MHRA) has signalled significant changes to the way rare disease treatments are regulated in the UK. While the details are still emerging, the reforms are expected to streamline approvals and improve access to innovative therapies for patients with rare conditions.
Reform to tackle unique challenges associated with rare diseases
Rare diseases affect approximately 3.5 million people in the UK, yet fewer than 5% of these diseases currently have approved treatments. The average diagnostic journey takes 5.6 years, and 30% of affected children die before the age of five.
Delayed diagnosis and limited treatment options cost the UK Government £340 million each year, with an additional £4.7 billion in health-related disability costs and a £14.9 billion annual economic loss.
The new paper, published by the MHRA, commits to major reform and aims to make significant improvements in rare disease outcomes.
Transforming rare disease treatments
The MHRA rulebook for rare disease therapies will be fully overhauled to make it quicker and easier to get treatments tested, manufactured, and approved in the UK.
The reform will address the unique challenges that prevent rare disease treatments from reaching patients. These challenges, including tackling small patient groups, limited scientific understanding of the condition, recruiting participants, and conducting clinical trials, are not just technical hurdles, but real barriers that patients and their families face every day.
Currently, each treatment for a rare disease requires a separate route through regulatory approval, including approval to initiate the clinical trial and then approval to market the treatment in the UK. This is a costly approach, marked by numerous inefficiencies.
The framework will be published next year, and the paper, shared on 2 November 2025, provides insight into sharing evidence in the UK, the importance of strengthened post-market surveillance, and better health system alignment in the UK.
Julian Beach, MHRA Executive Director, Healthcare Quality and Access, said: ”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. The challenge is bringing all these elements together, which our new framework will do.
There is still more work to be done. Still, I hope this paper reassures all those affected by rare diseases 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.
I would like to say a massive thank you to all those who have helped us get here today. This could not have been done without the collaboration of all.”
Nick Meade, Chief Executive of Genetic Alliance UK, said: “For too many families, a rare diagnosis comes without a viable cure or treatment. This programme is a vital step towards making that change. Fostering the development of treatments here in the UK will bring direct benefits for people living with rare conditions.
We welcome this clear signal of the UK’s commitment to becoming a world leader in rare condition therapy development, and our community of rare condition organisations stands ready to lend its expertise to make it a success.”
Dr Rick Thompson, CEO of Beacon: for rare diseases, said: “It has long been clear to our community of rare disease patient groups and charities that the UK has all of the ingredients to become a true leader in rare disease science and care provision; however, too often patients have been left feeling isolated and unseen by the health system.
This paper from the MHRA provides hope that a fundamental shift in the UK’s approach to caring for the millions affected by rare diseases is possible. The creation of regulatory pathways tailored to the unique challenges posed by rare diseases, along with a pragmatic approach to collecting data in the real world, is something we have hoped to see for many years. Beacon is excited to see what develops in the coming year, and committed to supporting the rare disease patient community to engage with this vital work however possible.”
