The Medicines and Healthcare products Regulatory Agency, known as the MHRA, has proposed a new approach to how treatments for very rare diseases are developed, licensed and monitored in the UK.
Right now, most medicines are tested through large clinical trials. For rare diseases, this is often impossible because there may be very few people with the condition. As a result, while around 1 in 17 people will be affected by a rare disease during their lifetime, only about 5% of rare diseases have an approved treatment.
What’s changing?
Developing any new medicine requires evidence that it is safe, effective and manufactured to an appropriate standard.
The MHRA is proposing a new process that could allow promising treatments to reach patients sooner, while continuing to collect evidence about how safe and effective they are.
Instead of relying only on large clinical trials, the system could use:
- Smaller or more flexible studies
- Existing scientific knowledge
- Real-world patient data
Treatments would be closely monitored and access could continue, change or be withdrawn as more evidence becomes available.
Keeping patients at the core
The proposal emphasises the importance of involving patients and families throughout the process.
This includes helping researchers and regulators understand:
- Which treatment benefits matter most to patients
- What level of risk and uncertainty may be acceptable
- What monitoring and follow-up would be manageable
Patients would also receive clear information about what is known, what remains uncertain, and how new evidence could affect access to treatment.
What could this mean for mitochondrial disease?
This approach could be particularly important for mitochondrial disease, where patient populations are often very small, symptoms and disease progression can vary widely from person to person and between different syndromes.
These challenges can make traditional clinical trials difficult, despite growing advances in genetic and personalised medicine. The proposed framework could help ensure that promising new treatments for small patient groups can be assessed more flexibly, while maintaining appropriate safety standards.
Lily’s involvement
The Lily Foundation has been involved in the MHRA’s Rare Disease Consortium work as a patient organisation, helping to bring the experiences of people affected by mitochondrial disease into discussions about how rare disease treatments are developed and regulated.
The consortium brings together regulators, health organisations, researchers, industry and organisations representing people affected by rare diseases.
Lily’s role is to help make sure the realities facing our community are understood. This includes the urgent need for treatments, the challenges of studying conditions that affect very small patient groups and the importance of clear safeguards and fair access.
Have your say
The framework is still a proposal, and the MHRA is seeking feedback from patients, families, carers, patient organisations, clinicians, researchers and medicine developers before making final decisions.
We’re asking anyone affected by mitochondrial disease to complete our short survey to help shape Lily’s response to the consultation. It should take no more than 5 minutes to fill in.
Complete Lily’s community survey
The survey closes at 11.59pm on Sunday 26th July 2026.
You can also read the full MHRA proposal, and respond directly to the official MHRA consultation if you’d prefer, which closes on Thursday 30th July 2026.
Help us drive change and create a better future for everyone affected by mitochondrial disease.
