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NCT Number: 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

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

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Key information

Conditions

Hereditary Amyloidosis, Transthyretin-Related Amyloidosis, Hereditary, Transthyretin-Related Asymptomatic Carrier State

Sex eligibility

All sexes

Study type

Observational

Primary location

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

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

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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 criteria

  • A known condition (other than hATTR amyloidosis) that can cause nerve damage and affect NfL levels
  • Estimated glomerular filtration rate (eGFR) <45 milliliters per minute per 1.73 meters squared (mL/min/1.73 m^2)
  • Currently enrolled in a clinical study for any investigational agent.

Treatment and study plan

Standard of care

Other

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.

Primary outcomes

  1. NfL Levels in Asymptomatic Carriers of a TTR Variant and Symptomatic hATTR Patients With Polyneuropathy at Baseline

    Time frame: Baseline

  2. Change in NfL Levels Over Time in Asymptomatic Carriers of a TTR Variant and Symptomatic hATTR Patients With Polyneuropathy

    Time frame: Up to 24 months

Secondary outcomes

  1. Correlation Between the NfL Levels and Various Biological and Clinical Activity Parameters in Asymptomatic Carriers of a TTR Variant and Symptomatic hATTR Patients With Polyneuropathy at Baseline

    Time frame: Baseline

  2. Correlation Between the Change in NfL Levels and Various Biological and Clinical Activity Parameters in Asymptomatic Carriers of a TTR Variant and Symptomatic hATTR Patients With Polyneuropathy

    Time frame: Up to 24 months

  3. Comparison of the Measured NfL Levels to the Normal Levels Expected to be Seen in the General Population by Using the Existing Reference Ranges and Databases

    Time frame: Baseline, 24 months

  4. Time to Onset of Active Disease in Asymptomatic Carriers of TTR Variants

    Time frame: Up to 24 Months

  5. Disease Progression in Symptomatic hATTR Amyloidosis Patients with Polyneuropathy

    Time frame: Up to 24 Months

Sponsors and collaborators

Lead sponsor

Alnylam Pharmaceuticals

Industry

Registry information

Official study title

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

Important dates

Study start
2024
Primary completion
2027
Study completion
2027
First posted
Apr 11, 2024
Registry last updated
May 20, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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