RecruitingNCT06360289

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

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


Sponsor

Alnylam Pharmaceuticals

Enrollment

500 participants

Start Date

Apr 25, 2024

Study Type

OBSERVATIONAL

Conditions

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

Inclusion Criteria4

  • \- 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 Criteria3

  • 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.

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Interventions

OTHERStandard of Care

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.


Locations(1)

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

Paris, Île-de-France Region, France

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NCT06360289


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