NCT06360289

Observational Study of Neurofilament Light Chain (NfL) as a Biomarker in Asymptomatic Carriers of the Transthyretin (TTR) Variants and Patients With Hereditary Transthyretin-mediated (hATTR) Amyloidosis With Polyneuropathy

Observational Study of Neurofilament Light Chain (NfL) Levels in Asymptomatic Carriers of the TTR Gene Variants and Patients With hATTR Amyloidosis With Polyneuropathy, Including Patients Who Undergo Treatment Change - NeuroFeeL Study

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 500 (estimated)
• Sponsor: Alnylam Pharmaceuticals · Industry
• Sex: All
• Age: —
• Healthy volunteers: Accepted

Summary

This is a single-center observational study evaluating the potential value of NfL as a biomarker for diagnosis, detection of disease onset, monitoring of disease progression, and treatment response in asymptomatic carriers of TTR variants and symptomatic hATTR amyloidosis patients with polyneuropathy.

Detailed description

In this study, participants' data will be extracted from their medical records or collected based on clinical and laboratory assessments during routine visits, per the site's standard of care. Blood samples collected from the participants during routine visits will also be used for analysis. The study will be conducted in two parts: Cross-Sectional part during which a single measurement of NfL levels will be performed using blood samples collected from asymptomatic carriers, and symptomatic hATTR amyloidosis patients; Longitudinal part during which measurements of NfL levels will be performed over time using blood samples (already collected from the participants during routine visits) from asymptomatic carriers and patients with symptomatic hATTR amyloidosis.

Conditions

• Hereditary Amyloidosis, Transthyretin-Related
• Asymptomatic Carrier State

Interventions

Type	Name	Description
OTHER	Standard of Care	This is an observational study. No study drug will be administered as a part of the study, participants will be treated according to the decision of the treating physician.

Timeline

• Start date: 2024-04-25
• Primary completion: 2027-12-01
• Completion: 2027-12-01
• First posted: 2024-04-11
• Last updated: 2025-12-24

Locations

1 site across 1 country: France