ALS Biobanking
Understanding MND starts with understanding what happens in the bodies of people living with it over time. The ALS Biomarkers Study collects blood, urine, saliva and stool from people with MND at five hubs across the UK. This takes place in clinic or from home, building the resource researchers need to find biomarkers that our understanding of MND still lacks.
Since early 2024, the study has recruited more than 200 people with MND at University College London, Oxford, King’s College London, Sheffield and Edinburgh Universities. The research teams have taken blood, plasma, serum, urine, saliva and stool samples from people living with MND at diagnosis and at follow-up visits over time.
Every centre follows the same protocol, and the study is designed so no one gives a sample twice. For instance, if someone has already contributed to EXPERTS-ALS, the study flags their existing samples and reuses them rather than repeating the collection.
Most importantly, collection isn’t limited to clinic visits. The study also uses at-home remote sampling kits. The research teams have tested whether blood taken this way gives the same biomarker readings as blood taken in clinic, so we’re confident the samples taken at home are as effective in our studies.
Alongside this, researchers from across the partnership, are growing motor neurons from stem cells carrying MND-linked genetic changes, exposing them to cellular stress in the lab, and comparing what these cells release with what shows up in patients’ blood and stool, looking for signs of immune dysregulation and gut microbiome changes alongside the markers of neuron damage itself.
Why does this matter?
Beyond neurofilament light chain (NfL), which tracks nerve damage as it happens, MND still has very few reliable biomarkers. That makes it hard to diagnose early, to tell its different forms apart, or to know quickly whether a trial drug is working. A validated biomarker panel could change all three.
What are biomarkers and why are they important?
A biomarker is something measurable in the body, usually a protein or other molecule found in blood, urine, or spinal fluid, that reliably tracks what’s happening with a disease. Doctors already rely on biomarkers across medicine: blood sugar for diabetes, cholesterol for heart disease, or specific molecules for different types of cancer. MND has one well-established biomarker, neurofilament light chain (NfL), a protein released when nerve cells are damaged; rising NfL levels can show that MND is progressing, sometimes before a person notices any change in their symptoms. But we need more than one biomarker to understand how MND works properly, and better ways to track and classify it as it develops.
What could this mean in the future?
A simple blood or stool sample could eventually flag MND risk before symptoms appear, help trials recruit the right people for a specific form of the disease rather than a broad mix, and give researchers a faster readout on whether a treatment is working than waiting to see whether someone’s symptoms change.
Who is leading this research project?
Led by Professor Ammar Al-Chalabi (King’s College London), Professor Linda Greensmith (UCL), Professor Andrea Malaspina and Professor Carolyn Young, with Kathryn Knowles and Elizabeth Lin leading the biomarker work day-to-day, working with commercial biomarker platforms Proteome Sciences and ALAMAR Biosciences.
