Publications

The material below is provided to support scientific exchange. Any content about investigational therapeutics or investigational uses of locally approved products does not establish the safety or efficacy of these therapeutics or uses, and there is no guarantee of local regulatory approval.

For questions beyond a product’s authorized indications or for information not available here, please contact Alnylam Medical Information.

Neurofilament light chain as a biomarker for hereditary ATTR amyloidosis

Publication Details

Amyloid

October 2024

Access Here

Author(s)

Masateru Tajiri¹, Mitsuto Sato¹, Minori Kodaira¹, Akira Matsushima¹, Yusuke Mochizuki¹, Yusuke Takahashi¹, Ken Takasone¹, Emre Aldinc², Simina Ticau², Gang Jia², Yoshiki Sekijima¹ ³

Affiliations

¹Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan; ²Alnylam Pharmaceuticals, Cambridge, MA, USA; ³Institute for Biomedical Sciences, Shinshu University, Matsumoto, Japan

Abstract

Background:

Neurofilament light chain (NfL) is a biomarker of neuronal injury in hereditary ATTR (ATTRv) amyloidosis. However, the correlation between NfL and nerve conduction study (NCS), the standard test for ATTRv neuropathy, has not been investigated.

Objective:

Elucidate the correlation between NfL and NCS parameters.

Methods:

227 serum NfL measurements were performed in 45 ATTRv patients, 5 asymptomatic carriers, and 12 controls. Among them, 177 simultaneous analyses of NCS and NfL were conducted in 45 ATTRv patients.

Results:

NfL levels of symptomatic patients were significantly higher than those of asymptomatic carriers and controls. Serum NfL levels were correlated with NCS parameters, especially compound muscle action potential (CMAP) and sensory nerve action potential (SNAP) amplitudes, indicators of axonal damage. CMAP and/or SNAP amplitudes were undetectable in 9 patients (no-amplitude group) due to advanced neuropathy. NfL levels in the no-amplitude group were significantly higher than those in patients with detectable CMAP/SNAP. NfL levels significantly decreased with patisiran, although no significant changes were observed in CMAP and SNAP.

Conclusions:

NfL levels are found to be correlated with CMAP/SNAP amplitudes. Compared with NCS, NfL can be a more sensitive biomarker for detecting treatment response and active nerve damage even in patients with advanced neuropathy.

PMID

39377666

DOI

10.1080/13506129.2024.2409760

Publication Materials

Visit website/URL/link

Neurofilament light chain as a biomarker for hereditary ATTR amyloidosis − correlation between neurofilament light chain and nerve conduction study

Presentation

Manuscript

Publications

Neurofilament light chain as a biomarker for hereditary ATTR amyloidosis

Publication Details

Author(s)

Affiliations

Abstract

Background:

Objective:

Methods:

Results:

Conclusions:

PMID

DOI

Publication Materials

Visit website/URL/link

Related Materials

Transthyretin-stabilising mutation T119M is not associated with protection against vascular disease or death in the UK Biobank

Investigating the pharmacodynamic durability of GalNAc-siRNA conjugates

DISCOVERY: prevalence of transthyretin (TTR) mutations in a US-centric patient population suspected of having cardiac amyloidosis

Patisiran Pharmacokinetics, Pharmacodynamics, and Exposure-Response Analyses in the Phase 3 APOLLO Trial in Patients With Hereditary Transthyretin-Mediated (hATTR) Amyloidosis

Association of Patisiran, an RNA Interference Therapeutic, With Regional Left Ventricular Myocardial Strain in Hereditary Transthyretin Amyloidosis: The APOLLO Study

Effects of Patisiran, an RNA Interference Therapeutic, on Cardiac Parameters in Patients With Hereditary Transthyretin-Mediated Amyloidosis

Warning !

Confirmation !

Update Password