Overview
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.
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.
Eligibility
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.