We previously identified blood-base neurofilament light chain (NfL) as a biomarker that predicts phenoconversion to ALS in carriers of SOD1 pathogenic variants associated with rapidly progressive disease. In turn, this enabled the design and initiation of ATLAS, the first ALS prevention trial.
Now, in this landmark longitudinal proteomics study published in Nature Medicine, we report the discovery of a host of blood-based proteins that change pre-symptomatically. Importantly, we identified a small panel of proteins that predict phenoconversion among carriers of a wide range of pathogenic variants. These findings critically advance the field towards the goal of ALS prevention.
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