Therapies for rare diseases will be overhauled to make it quicker and easier to get them tested, manufactured and approved in the UK, the Medicines and Healthcare products Regulatory Agency (MHRA) has announced.
A new paper from the MHRA outlines the ambitious overhaul of rare disease treatment, supporting the UK Government’s Life Sciences Strategy.
Central to this reform will be addressing the unique barriers that currently prevent life-changing rare disease therapies from reaching patients, such as small patient numbers and challenges in generating evidence, while maintaining patient safety.
Limitations in current therapies for rare diseases
Around 3.5 million people in the UK live with a rare disease, equivalent to one child in every classroom. When carers are included, this community is larger than the population of London.
Despite this, fewer than 5% of rare diseases currently have an approved treatment. The average diagnostic journey takes 5.6 years, and 30% of affected children die before the age of five.
The cost of delayed diagnosis and limited treatment options is estimated at £340m annually, with an additional £4.7bn in health-related disability costs and a £14.9bn annual economic loss.
Major reforms are needed to improve diagnosis and treatment
The paper published today outlines how the MHRA is considering changing this. It commits the UK to major reform and sends a huge signal that significant change for patients with rare diseases is on its way.
Julian Beach, MHRA Executive Director, Healthcare Quality and Access, explained: “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.”
He added: “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.”
Challenges of developing new rare disease treatments
It’s a lot more challenging to develop a therapy for a rare disease than for a more common disease like diabetes or hypertension.
With small, scattered patient groups and limited scientific understanding of the condition, recruiting participants and conducting clinical trials can be challenging and expensive, making it significantly harder to gather the evidence needed to prove that a treatment is effective.
New advances in science and technology are helping to overcome this
Advances in science and technology are now enabling highly individualised treatments, even for relatively common rare diseases that affect several thousand people in the UK.
Gene-based therapies such as CRISPR or mRNA 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.
Currently, each new rare therapy requires a separate route through regulatory approval, including approval to set up the clinical trial and then approval to be marketed in the UK (known as a marketing authorisation or licence).
This approach is costly and inefficient, making it unviable to develop multiple highly targeted treatments.
A new direction
Nick Meade, Chief Executive of Genetic Alliance UK, stated: “For too many families, a rare diagnosis comes without a viable cure or treatment.
“This programme is a vital step towards changing that. Fostering the development of treatments here in the UK will bring direct benefits for people living with rare conditions.”
While the framework won’t be published in full until next year, the paper outlines some bold ideas, including whether an early, single approval could be issued for both a clinical trial application and marketing authorisation based on compelling but limited evidence.
This approval would be granted with a strict safety monitoring plan, including a review of real-world evidence at a set frequency.
This work supports the Government’s Rare Disease Action Plan, as well as the long-term plans for the NHS and life sciences sector.
