Key Summary
- MHRA plans to overhaul rulebook to speed up rare disease treatments
- Personalised therapies are advancing but current approval systems are slow and costly
- New framework suggests single early approvals, better data sharing and stronger safety checks
The Medicines and Healthcare products Regulatory Agency (MHRA) has said the rulebook for rare disease therapies will be overhauled for quicker testing, manufacturing and approval of these therapies.
Around 3.5 million people in the UK are affected by rare disease but only 5 percent of rare diseases have approved treatment.
In a new paper, the MHRA has stated that this reform will tackle the current obstacles that prevent rare disease therapies from reaching patients.
This includes small patient numbers and difficult evidence generation, while maintaining safety.
With small, scattered patient groups and limited scientific understanding of the condition, recruiting participants and conducting clinical trials can be difficult and expensive.
This makes it much harder to gather the evidence needed to prove that a treatment works. This also reduces the financial incentive for companies to invest.
The average diagnostic journey takes 5.6 years, and 30 percent of affected children die before the age of five.
However, 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.
CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) is a gene-editing tool that cuts and changes DNA at precise spots, while mRNA (messenger RNA) delivers instructions from DNA to help cells make specific proteins.
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.
Each rare disease treatment currently needs separate approvals for clinical trials and for being sold, which is slow and expensive.
However, the new plan suggests giving one combined early approval, based on strong early evidence, with strict safety checks and regular real-world monitoring.
The paper explores better ways to share rare disease data, whether a single approval could cover personalised treatments, and the need for stronger safety monitoring and system alignment in the UK and abroad, all supporting the Government’s Rare Disease Action Plan and long-term NHS goals.
“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,” said MHRA executive director, Healthcare Quality and Access, Julian Beach.
“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,” she added as she expressed her gratitude for the support they received for this project.
“This paper from the MHRA provides hope that a real shift in the UKs approach to caring for the millions affected by rare diseases is possible,” spoke Dr Rick Thomson, CEO of Beacon: for rare diseases.
