A diagnostic/prognostic biomarker for ATTRv amyloidosis

Scientists from Alnylam Pharamaceuticals used thirteen Olink Target 96 panels in a phase III clinical trial of the drug patisiran to treat the rare, progressively debilitating and ultimately fatal neurological disease, hereditary transthyretin-mediated (ATTRv)  amyloidosis.

  • The disease is difficult to diagnose and assess, with a difficult to administer symptomatic impairment score the only available tool.
  • Analysis of 1,161 unique proteins with Olink in plasma samples revealed 66 markers that changed significantly in response to patisiran during the trial
  • This proteomic profile associated with disease severity and trended towards healthy controls after 18 months of drug treatment
  • Neurofilament light chain (NfL) showed by far the most significant associations, with a four-fold higher expression level in ATTR patients compared to healthy controls at baseline and strong correlations with disease severity and drug response compared to standard clinical assessment scores

This study highlighted the value of large-scale protein biomarker discovery in drug development-related projects aimed at finding new disease biomarkers and looking for a molecular-level window into patient responses to therapeutics.

Detailed summary

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Original citation

Ticau et al., “Neurofilament light chain as a biomarker of hereditary transthyretin-mediated amyloidosis,” Neurology,
96:e412-e422, 2021.