Lead: Professor Kevin Talbot
Our team sees about 10 percent of all the UK patients with motor neurone disease (MND), many of them because they want a specialist diagnosis, or confirmation of an existing diagnosis. They are highly motivated to participate in our clinical trials, engaging with us to make MND a more treatable condition, often knowing that it won’t help them.
It is clear that MND is not one disease; it has multiple causes, and we need to improve our understanding of the different forms the disease takes; why does it progress rapidly in some people and slowly in others – and what is the biological basis for this? We are striving to develop more personalised treatment for our patients.
To reduce the impact of neurogenerative diseases like MND, we need to find ways of treating people earlier. That means doing clinical trials with people who are yet to develop the disease as we see it in the clinic. By giving every patient who comes into our clinic the opportunity to participate in our studies, we will create a critical mass of data that will allow us to identify people at risk much earlier.
Oxford has one of the leading research groups in the world developing biomarkers for MND. We routinely collect samples from patients when they come to the clinic, in an effort to identify these molecules that can be an early sign of a disease. We are now expanding this approach by doing much deeper analysis of the proteins in blood and spinal fluid in order to better characterise patients.
We are using a specialised procedure called real-time quaking-induced conversion – a highly sensitive test to detect prions, or ‘misfolded’ proteins – to distinguish between the TDP-43 and tau proteins, which help to diagnose the related condition, frontotemporal dementia. Developing this test will allow researchers to stratify their trials appropriately and will ultimately be an important step forward for early diagnosis and for understanding the variations in the disease that we see in clinic.
We are working with colleagues in other centres around the UK and internationally to pool our knowledge around MND.
We are indebted to role played by our partners in the ACORN C9orf72 MND gene mutation study and the Families for the Treatment of Hereditary MND (FATHoM), which brings together the community of families affected by inherited forms of MND, and the MND Association. Listen to a series of talks on MND organised by FATHoM