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Some 3.5 million people in UK are affected by rare disease but only 5 per cent of rare diseases have an approved treatment. Now a new paper from the MHRA sets out UK regulator's intention to overhaul its rulebook for rare disease therapies.

Central to the proposed reforms will be tackling the unique barriers that currently prevent rare disease therapies from reaching patients, like small patient numbers and difficult evidence generation.

It takes on average 5.6 years for rare diseases to be diagnosed, and 30 per cent 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, the MHRA says.

Supporting the development of the reforms is a newly formed Rare Disease Consortium, which includes patients and their representatives, academics and industry.

“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,” says Julian Beach, MHRA executive director, healthcare quality and access.

It is more challenging to develop a therapy for a rare disease than for more common diseases 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.

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.

Currently, each new rare therapy requires a separate route through regulatory approval. 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 MHRA paper outlines ideas such as 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.