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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
Conditions: Hereditary Amyloidosis, Transthyretin-Related, Asymptomatic Carrier State
Sex: All
Healthy volunteers: Yes
Enrollment: 346
Sponsor: Alnylam Pharmaceuticals
Location: Centre Hospitalier Universitaire (CHU) Le Kremlin-Bicêtre Assistance Publique-Hôpitaux de Paris (APHP) Paris Île-de-France Region
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 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) \
Source: ClinicalTrials.gov (NCT06360289). StuddyBuddy aggregates publicly available trial information.
