Our £1 million investment to transform clinical trials for Charcot-Marie-Tooth disease
15 July 2025
We’ve invested £1 million in a new project led by Professor Mary Reilly at University College London. The goal is to help scientists track changes in Charcot-Marie-Tooth disease (CMT) more clearly. This is an important step towards faster, more effective clinical trials and better care for people living with CMT in the UK.
CMT is a condition that affects the nerves. These nerves carry signals to help us move and feel sensations, such as touch and pain. The condition gets worse slowly over time. Many people living with CMT say they notice changes between doctor visits, but tests don’t always pick them up. We also don’t know enough about how CMT changes over time or what daily life is like for people with it. This makes it harder to give the right care, support and treatment.
“The tests run by my doctor don’t really seem to pick up any decline between appointments. But I definitely notice decline within that time.”
Anne Furby
Diagnosed with CMT at age five
Why tracking changes is important
With a number of promising CMT treatments now being developed, scientists need better ways to track how the condition changes. This is important because before any new treatment can be made widely available, it must be tested in clinical trials. These are carefully planned tests that check if treatments are safe and work.
But clinical trials can only give clear answers if we can see changes in CMT within a short time, usually one or two years. Without this, it’s hard to know if a treatment is working or to design trials that truly reflect real life with CMT.
Tracking small changes better could also help doctors spot when someone needs extra support, like physiotherapy, mobility aids, or other help in daily life.
“CMT is by and large a slowly progressive condition, but it is undoubtedly progressive. Many of our measures, such as examining patients or testing muscles, do not measure change quickly enough. They will pick up change over three to five years, but a clinical trial is only one or two years. If we’ve got lots of potential treatments but can’t measure change, then we’ll never know if the treatments work.”
Professor Mary Reilly
Lead researcher
The TRANSFORM-CMT Project
The new project, called TRANSFORM-CMT, will help solve these problems. It will:
Develop a test using MRI scans to find small changes in leg muscles. When nerves are damaged, fat builds up in muscles. This test will spot even tiny changes in fat levels.
Collect more information from people living with CMT across the UK to build a clearer picture of how the condition changes and affects daily life.
Train and equip more centres in the UK to run CMT clinical trials so more people can take part.
Why this research matters
Clinical trials are very important for finding new treatments. But they take time, money, and they need to give clear answers. Without reliable ways to track changes in CMT, trials may take longer or fail to show if a treatment works.
The information from this project will do more than help trials. It could also be used help decide whether a new treatment, if found to work, should be available on the NHS. By learning how CMT affects daily life, we can better see how new treatments help people and if they could save money for the health service.
This research marks a big step forward to get the UK ready for better CMT clinical trials. It brings us one step closer to finding treatments that could really help people with CMT.
Looking ahead
“We’re at a pivotal turning point. We’re already doing two clinical trials and there are multiple drugs in development about to come into human trials. What excites me is that this research will give us a way of doing clinical trials in multiple centres in the UK speeding up the development of new treatments.”
Professor Mary Reilly
“Hearing about this research has given me optimism for future generations of people with CMT – that there might be a way to slow down their progression, make living with the condition more comfortable, or maybe even one day stop it completely.”
Anne Furby
“We’re proud to be funding this vital research, which is a key step towards making CMT clinical trials faster, more effective, and more inclusive. By understanding the condition better, and making clinical trials more accurate and accessible, it brings us closer to the day when effective treatments are available to people with CMT.”
