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

Last updated: November 14, 2025
Sponsor: Alnylam Pharmaceuticals
Overall Status: Active - Recruiting

Phase

N/A

Condition

Amyloidosis

Treatment

Standard of Care

Clinical Study ID

NCT06360289
ALN-TTR-NT-003
  • All Genders
  • Accepts Healthy Volunteers

Study 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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Carrier of a documented pathogenic TTR variant confirmed with genotyping with predicted disease onset within 5 years and not diagnosed with hATTR amyloidosis with polyneuropathy

OR

Confirmed diagnosis of hATTR amyloidosis with polyneuropathy with a documented TTR variant confirmed with genotyping

  • Participant is able to understand the study and does not oppose participating in the study after reviewing the content of the PIS provided.

Exclusion

Exclusion Criteria:

  • A known condition (other than hATTR amyloidosis) that can cause nerve damage andaffect NfL levels

  • Estimated glomerular filtration rate (eGFR) <45 milliliters per minute per 1.73meters squared (mL/min/1.73 m^2)

  • Currently enrolled in a clinical study for any investigational agent.

Study Design

Total Participants: 500
Treatment Group(s): 1
Primary Treatment: Standard of Care
Phase:
Study Start date:
April 25, 2024
Estimated Completion Date:
December 01, 2027

Study 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.

Connect with a study center

  • Centre Hospitalier Universitaire (CHU) Le Kremlin-Bicêtre Assistance Publique-Hôpitaux de Paris (APHP)

    Paris, Île-de-France 94270
    France

    Site Not Available

  • Centre Hospitalier Universitaire (CHU) Le Kremlin-Bicêtre Assistance Publique-Hôpitaux de Paris (APHP)

    Paris 2988507, Île-de-France Region 3012874 94270
    France

    Active - Recruiting

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