MHRA on their reform plans to transform regulatory approaches for rare diseases
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In November, MHRA revealed thefirst details of its ambitious plansto enable life-saving rare disease treatments to be approved earlier in the UK. Regulatory pathways will be overhauled to make it quicker and easier to test, manufacture and approve rare disease therapies
Central to MHRA’s (Medicines and Healthcare products Regulatory Agency) planned reform is the need to tackle unique barriers that currently prevent life-changing rare disease therapies from reaching patients, such as small patient numbers and difficulties with generating required clinical trial evidence.
RARE Revolution has spoken with patient advocacy groups, industry and the MHRA to find out more about its plans, and what these could mean for the field of rare disease in the coming months.
“Huge step forward” – patient charity view
Beacon, a rare disease charity for patient groups, is a member of a new body, the Rare Disease Consortium. This has contributed patient, industry and regulator perspective to the MHRA as it devised its plans for reform. Beacon provided patient insight and says, it is optimistic MHRA’s ambitious plans could represent real change for rare disease patients.
“These plans are hugely exciting for the rare disease community,” says Dr Rick Thompson, Beacon’s chief executive. “The idea of building a regulatory pathway that is designed to suit the unique needs and challenges of rare disease drug development is transformational.
“Including a new type of licence in this—and investigational designation which actively recognises the need for balance between patient need and continuous evidence development—is revolutionary,” he continues. “While we still need to wait and see how these plans develop and are implemented, this does represent a huge step forward for patient access to rare disease therapies in the UK.”
The Rare Disease Consortium also included industry partners such as LifeArc.
“For people living with rare diseases, every moment counts: they need action now,” explains Sam Barrell, LifeArc’s chief executive. “This is the message I hear time and again when speaking with families.
“The proposed new framework aims to tackle some of the key challenges holding back new treatments reaching people who need them. If we seize this opportunity and position the UK as a hub for innovative research in rare diseases, the breakthroughs we achieve could also revolutionise care for more common conditions,” she adds.
MHRA – why change is needed
While the science has moved on, the current regulation is built for an earlier era, and this has prompted the need for reform.
“It is more challenging to develop a therapy for a rare disease than for a more common disease,” explains Julian Beach, MHRA’s interim executive director of healthcare quality and access.
“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 can also reduce the financial incentive for companies to invest.”
The problem is the current approach is better suited to drug development targeted at diseases affecting many people, the MHRA has previously said. Therefore, a new, bespoke framework for rare diseases is essential.
“Advances in science and technology are now enabling highly individualised treatments (RR: such as CRISPR), where therapies can be tailored to target specific patient subgroups,” Julian continues. “A patient-focused regulatory framework is essential to address the unique challenges of rare diseases and to support timely access to innovative products including individualised therapies.”
Creating digital twins to act as placebo groups
One of the innovative introductions in the proposed new framework is the use of computer modelling to create digital twins that could be used as a placebo group in clinical trials. This could be a potential solution to the issue of small patient numbers and enable more trials to reach fruition to create new treatment options. Julian tells us more.
“The MHRA recognises the potential of computer modelling to accelerate trial set-up, enhance patient safety and lower development costs,” he explains. “At the same time, several important considerations must be addressed for this approach to be effective.
“First, data used for building the model must be validated to ensure it accurately reflects real-world patient outcomes. The methodologies applied should also be transparent and reproducible. Data privacy remains a critical issue as patient information used to create these models must be managed securely and ethically,” he says.
Earlier access to treatments
Another proposed change in the new regulatory framework is to speed up access to treatments. Interim results that show signs of a condition improving could be approved to progress to the next stage of drug development, rather than waiting for long-term clinical trial data before this can happen. Julian explains how this could work in practice.
“As part of this new regulatory pathway for rare diseases, preliminary approvals may be granted based on appropriate, though limited, evidence, with iterative reassessment throughout the product lifecycle,” he explains.
“This process will include transparent discussions with stakeholders from the outset to define product components, evidence requirements, intended application and ongoing lifecycle management. Regular reviews will ensure that approvals remain appropriate over time. This licensing structure brings greater speed and flexibility to the approval process, while upholding rigorous regulatory standards and obligations.”
RARE Revolution also sought the MHRA’s view on what difference the proposed framework could make, both for researchers and patients.
“For researchers, it provides a more streamlined development pathway, encourages early and continuous engagement with the MHRA, reduces uncertainty, and supports a more sustainable economic and development model,” Julian advises. “For patients, it enables earlier access to treatment and ensures that their perspectives and risk acceptance are central to decision-making.”
“Potential to transform patient lives”
Rick feels the most important component of the proposed changes is the inherent flexibility and openness to innovation that the MHRA has indicated with its ambitious plans.
“Collecting data to establish the efficacy of rare disease medicines in a standard randomised double-blind placebo-controlled trial is exceptionally challenging and often inappropriate,” he tells RARE Revolution.
“The MHRA’s willingness to explore digital twins, innovative trial designs, and real-world evidence, shows a desire for UK regulators to create an environment where people living with an ultra-rare disease have the potential to see medicines developed and actually reach the market,” Rick adds. “If nothing else, this creates hope for those people living with rare conditions that have previously had none.”
Industry also shares patient advocacy group optimism, RARE Revolution has found.
“Advancing regulatory approaches for rare diseases is essential to ensure that patients with the greatest unmet need can access innovative treatments without unnecessary delay,” says Dr Jacqueline Barry, Cell and Gene Therapy Catapult’s chief clinical officer.
“The MHRA aims to create flexible, science-led regulatory pathways that speed up clinical trials, and product approvals for rare disease therapies, while upholding the highest standards of safety, efficacy, and quality,” she adds. “These efforts have the potential not only to transform patients’ lives, but also to reduce the long-term burden on the NHS.”
With advances in science and technology including the advent of personalised gene-based therapies, the UK needs a new and bolder rare disease regulatory framework. The MHRA aims to be world-leading in its new approach.
“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,” Beach adds. “The challenge is bringing all these elements together, which our new framework will do.”
A draft of the framework is anticipated to be available in the spring, and this will be followed by external review by the end of summer. MHRA has suggested potential legislative or further development steps could occur during this period. A public consultation will also be carried out, and the confirmed framework is due to be revealed by late 2026.
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