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
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Hereditary Amyloidosis, Transthyretin-Related
- Sponsor
- Alnylam Pharmaceuticals
- Enrollment
- 500
- Locations
- 1
- Primary Endpoint
- NfL Levels in Asymptomatic Carriers of a TTR Variant and Symptomatic hATTR Patients With Polyneuropathy at Baseline
- Status
- Recruiting
- Last Updated
- 4 months ago
Overview
Brief 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.
Investigators
Eligibility Criteria
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
- •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.
Outcomes
Primary Outcomes
NfL Levels in Asymptomatic Carriers of a TTR Variant and Symptomatic hATTR Patients With Polyneuropathy at Baseline
Time Frame: Baseline
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
- 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(Up to 24 months)
- 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(Baseline)
- 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(Baseline, 24 months)
- Time to Onset of Active Disease in Asymptomatic Carriers of TTR Variants(Up to 24 Months)
- Disease Progression in Symptomatic hATTR Amyloidosis Patients with Polyneuropathy(Up to 24 Months)