New paper sets out UK regulator's intentions to overhaul rulebook for rare disease therapies in UK
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, the Medicines and Healthcare products Regulatory Agency (MHRA) has announced in a new paper published today supporting the ambitions of the Government’s life sciences strategy.
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Central to this reform will be tackling the unique barriers that currently prevent life-changing rare disease therapies from reaching patients, like small patient numbers and difficult evidence generation, while maintaining safety.
Around 3.5 million people in the UK – one in 17 – 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.
Yet 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 £340 million annually, with a further £4.7 billion in health-related disability costs and a £14.9 billion annual loss to the economy.
The paper published today sets out how the MHRA is thinking to change this. It commits the UK to major reform and is a huge signal that significant change for rare disease patients is on its way.
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Supporting the development of the reforms is a newly formed Rare Disease Consortium, which includes patients and their representatives, academics and industry.
Julian Beach, MHRA Executive Director, Healthcare Quality and Access, said:
It is 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 difficult and expensive, making it much harder to gather the evidence needed to prove that a treatment works. This also reduces the financial incentive for companies to invest.
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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 an approval to get the clinical trial set up and then an 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.
While the framework won’t be published in full until next year, the paper today 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 with real-world evidence review at a set frequency.
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The paper also sets out:
This work supports the Government’s Rare Disease Action Plan, as well as the long-term plans for the NHS and life sciences sector.
Nick Meade, Chief Executive of Genetic Alliance UK, said:
Dr Rick Thompson, CEO of Beacon: for rare diseases, said:
Dr Jacqeline Barry, Chief Clinical Officer, Cell and Gene Therapy Catapult, said:
Sam Barrell, CEO of LifeArc, said:
Dr Harriet Holme, Founder and Executive Chair of PCD Research:
Notes to Editors
This work would not have been possible without the support of the Rare Disease Consortium, which is made up of:
The Medicines and Healthcare products Regulatory Agency (MHRA) is responsible for regulating all medicines and medical devices in the UK by ensuring they work and are acceptably safe. All our work is underpinned by robust and fact-based judgments to ensure that the benefits justify any risks.