Science News: Serum Neurofilament Light Chain as a Reliable Biomarker of Hereditary Transthyretin-Related Amyloidosis - A Swiss Reference Center Experience

Submitted by: Nakul Katyal, MD
Edited by: Pritikanta Paul, MD

Citation: Loser V, Benkert P, Vicino A, et al. Serum neurofilament light chain as a reliable biomarker of hereditary transthyretin-related amyloidosis-A Swiss reference center experience. J Peripher Nerv Syst. 2023;28(1):86-97. doi:10.1111/jns.12524

Summary: In this prospective study, the authors aimed to determine if serum neurofilament light chain (sNfL) is a reliable and early biomarker of peripheral neuropathy in hereditary transthyretin-related (hATTR) amyloidosis.

A total of 20 hATTR patients, 14 symptomatic and 6 asymptomatic were included and assessed at baseline and after 1 year. Patients over 18 years old who were carriers of a pathogenic TTR mutation were enrolled in this study. Patients were considered asymptomatic if they had either no clinical symptoms or mild subjective isolated sensory symptoms with normal nerve conduction study (NCS) and electrochemical skin conductance. In addition to detailed clinical assessment, electrochemical skin conductance measurement, NCSs, and sNfL levels were measured for all patients. hATTR patient sNFLs were also compared with 4,532 healthy controls.

At baseline, the median sNfL concentration was 3.6 times greater in hATTR patients with symptoms compared to those without symptoms (P = 0.003). There was no difference noted in sNfL levels between asymptomatic patients and healthy controls, but significant difference noted between symptomatic and healthy controls. Additionally, significant correlation between sNfL levels and disease severity scores were noted, with the strongest being with the Neuropathy Impairment score (NIS). Two patients treated with patisiran had a reduction in sNfL levels. The authors concluded sNfL appears to be a dependable biomarker for gauging peripheral neuropathy severity in hATTR amyloidosis, capable of discerning between asymptomatic and symptomatic patients and holds promise as a potential biomarker for identifying disease onset and evaluating treatment response.

Comments: This study presents intriguing insights into the potential of sNfL as a biomarker for peripheral neuropathy in hATTR amyloidosis. According to this study, sNfL shows promise as a dependable marker to differentiate between asymptomatic and symptomatic patients. However, notable limitations include small sample size, as well as the brief duration of follow-up. Larger studies with longer longitudinal follow-up are required to further explore these findings.