Thirty-three proteins differentially expressed in patients with ALS and controls; model able to diagnose ALS with high accuracy
TUESDAY, Sept. 9, 2025 (HealthDay News) — A plasma proteomics-based biomarker panel can predict amyotrophic lateral sclerosis (ALS) before emergence of symptoms, according to a study published online Aug. 19 in Nature Medicine.
Ruth Chia, Ph.D., from the National Institutes of Health in Bethesda, Maryland, and colleagues conducted a cross-sectional study using the Olink Explore 3072 platform to examine plasma proteomics as a biomarker tool for ALS.
The researchers found that 33 proteins were differentially abundant in the plasma of 183 patients with ALS versus 309 controls. The findings were replicated in an independent cohort of 48 patients with ALS and 75 controls. Machine learning was applied to create a model that diagnosed ALS with high accuracy (area under the curve, 98.3 percent). The age of clinical onset was estimated by analyzing plasma samples from individuals before emergence of ALS symptoms, indicating that the disease process occurs years before symptom onset.
“With a test that allows for earlier detection of ALS, we have opportunities to enroll people in observational studies, and by extension, offer promising disease-modifying — and hopefully disease-stopping — medications, before ALS becomes debilitating,” coauthor Alexander Pantelyat, M.D., from Johns Hopkins University School of Medicine in Baltimore, said in a statement.
Several authors have a patent pending on the diagnostic testing for ALS based on the proteomic panel. Two authors disclosed ties to Cerevel Therapeutics.
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