A new study has identified a blood-based biomarker panel capable of detecting ALS up to ten years before symptoms emerge, offering a significant step forward in early diagnosis and monitoring.
Researchers from the National Institutes of Health (NIH), in a collaborative effort with international partners, analysed plasma samples from thousands of individuals, including participants from the UK Biobank. This collective effort, utilising large-scale protein analysis and machine learning, resulted in the identification of a panel of 33 proteins that were expressed differently in individuals with ALS.
The model demonstrated high accuracy in distinguishing ALS from healthy controls and other neurological conditions. Crucially, the protein signature was detectable in people years before clinical symptoms appeared.
Protein profiling reveals early disease signature
The study confirmed neurofilament light chain (NfL) as a strong marker, but also identified novel proteins associated with energy metabolism, neuronal function, and muscle maintenance. These findings expand the biological understanding of ALS and suggest new avenues for therapeutic targeting. The ability to identify ALS in its pre-symptomatic phase could significantly improve the design and timing of clinical trials.
Building on previous research into ALS biomarkers, this study is one of the first to demonstrate that analysing groups of proteins can reliably predict disease onset long before symptoms appear. The use of machine learning enabled researchers to refine the model across diverse groups, including those genetically at risk. This approach could not only help clinicians identify candidates for early intervention but also help tailor monitoring to each person’s level of risk.
Towards precision medicine in ALS
The researchers are now investigating how the protein panel can be used to monitor disease progression and response to treatment over time. While further validation is needed before the test can be implemented in clinical settings, the findings underscore the importance of understanding which proteins are associated with ALS. Blood-based protein analysis could offer a way to detect the disease years before symptoms appear, providing more innovative and more effective methods for assessing disease progression. However, it’s essential to remember that further validation and work are needed before this can be widely rolled out and we also need new treatments if we are to take full advantage of this information.
The paper was published in Nature Medicine and can be accessed here.
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