NfL Levels May Serve as a Useful Biomarker in Hereditary ATTR Amyloidosis

Document with diagnosis amyloidosis in a hospital.
The primary goal of this study was to evaluate long-term change in neurofilament light chain levels in response to patisiran in patients with ATTRv amyloidosis enrolled in the Global OLE study.

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Neurofilament light chain (NfL) levels may be a good biomarker of treatment response and disease progression in patients with hereditary transthyretin-mediated (hATTR) amyloidosis, also referred to as ATTRv amyloidosis. These study findings will be presented at the American Academy of Neurology (AAN) 2021 Virtual Annual Meeting, to be held from April 17 to 22, 2021.

In this study, researchers measured NfL plasma levels in healthy people in the control group and patients with ATTRv amyloidosis with polyneuropathy. Samples were assessed from the APOLLO study at both baseline and at 18 months in the groups receiving patisiran and placebo. Study researchers then measured the NfL levels at 12 and 24 months after the APOLLO study in patients who entered a Global Open-Label Extension (OLE) study.

The long-term efficacy and safety of patisiran, an approved treatment of ATTRv amyloidosis with polyneuropathy, is being studied in the Global OLE study. Additionally, study researchers are looking into various plasma biomarkers, including NfL, to facilitate earlier diagnosis and to monitor disease progression and treatment response in patients with ATTRv amyloidosis.

At baseline, the NfL levels in participants in the placebo and patisiran groups were 63.2 and 72.1 pg/mL, respectively. The levels of NfL increased to 99.5 pg/mL in the placebo group participants during the APOLLO study, while there was a significant reduction in NfL levels to 48.8 pg/mL after 18 months of treatment with patisiran. The NfL reduction in the patisiran group participants was maintained through 24 months of additional treatment in the Global OLE (44.0 pg/mL).

In the Global OLE, the placebo group participants from the APOLLO trial had a reduction in their NfL levels through 24 months after initiation of patisiran (44.2 pg/mL). After initiating patisiran in APOLLO placebo group, the levels of NfL in this group had a reduction in levels similar to the APOLLO patisiran group in the OLE study through 24 months.

The study researchers concluded that “NfL may serve as a biomarker of active nerve damage and polyneuropathy due to TTR amyloid deposition.”


Polydefkis M, Ticau S, Erbe D, et al. Neurofilament light chain (NfL) as a potential biomarker of treatment response in hereditary transthyretin-mediated amyloidosis: Data from the Patisiran Global OLE study. Presented at: the 2021 American Academy of Neurology Virtual Annual Meeting; April 17 to 22, 2021. Abstract P8.093.