Julian Claxton / Alamy Stock Photo
The Medicines and Healthcare products Regulatory Agency (MHRA) has said it will introduce “major reform” to rare disease treatments through a new framework in 2026.
In a statement published on 2 November 2025, the MHRA said there were around 3.5 million people in the UK with a rare disease, equivalent to 1 in 17 people, “yet fewer than 5% of rare diseases currently have an approved treatment”.
It also pointed out that the average diagnostic journey for rare diseases takes more than five years and that 30% of affected children die before the age of five years.
“The cost of delayed diagnosis and limited treatment options is estimated at £340m annually, with a further £4.7bn in health-related disability costs and a £14.9bn annual loss to the economy,” it said.
To tackle this, “the rulebook for rare disease therapies will be overhauled to make it quicker and easier to get these therapies tested, manufactured and approved in the UK”.
This will include tackling barriers such as small patient numbers and difficult evidence generation, the regulator added.
The MHRA’s policy paper on the reforms, published on 2 November 2025, includes proposals to introduce a new licensing pathway to allow: therapies for small populations to be approved more quickly, even with limited clinical data; use of real-world data and innovative trial designs to support regulatory decisions; and involving patients in every stage of the framework’s development.
The proposals also include the formation of a Rare Disease Consortium, to include patients and their representatives, academics and industry, which is aimed to support the development of the reforms.
The regulator explained that it is challenging to develop therapies for rare diseases owing to small patient groups and limited scientific understanding of conditions, meaning that conducting clinical trials and recruiting participants can be “difficult and expensive”.
It added that currently available technologies, such as the gene-based therapies CRISPR or mRNA, for “relatively common rare diseases that affect several thousand people in the UK” can be tailored to target specific patient subgroups.
“In the case of CRISPR, a treatment may even be designed for a single individual based on their unique genetic profile, despite many others sharing the same condition,” it said.
Julian Beach, executive director of healthcare quality and access at the MHRA, 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, 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.”
Claire Anderson, president of the RPS, commented: “We welcome the MHRA’s plans to accelerate access to rare disease treatments.
“Addressing the challenges of small patient populations and evidence generation is vital, and more flexibility in the regulatory framework will help greatly. Pharmacists will be central to ensuring these new medicines are safely and effectively delivered. We look forward to supporting the MHRA to bring faster, fairer access to life-changing medicines.”
Rick Thompson, chief executive of Beacon, a rare disease charity, said: “The creation of regulatory pathways tailored to the unique challenges posed by rare diseases, and a pragmatic approach to collection of 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 important work however possible.”
The MHRA said it will consult on the framework in 2026, with a draft anticipated to be available by spring 2026.
