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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

NCT ID: NCT06360289

Last Updated: 2025-12-24

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-04-25

Study Completion Date

2027-12-01

Brief Summary

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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

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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.

Conditions

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Hereditary Amyloidosis, Transthyretin-Related Asymptomatic Carrier State

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Asymptomatic Carriers

Participants who are asymptomatic carriers of a pathogenic TTR variant, and not diagnosed with hATTR amyloidosis with polyneuropathy will be enrolled in this cohort.

Standard of Care

Intervention Type 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.

Participants with hATTR Amyloidosis with Polyneuropathy

Participants with a confirmed diagnosis of hATTR amyloidosis with polyneuropathy with a documented TTR variant will be enrolled in this cohort.

Standard of Care

Intervention Type 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.

Interventions

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Standard 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.

Intervention Type OTHER

Eligibility Criteria

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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.
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Alnylam Pharmaceuticals

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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

Paris, Île-de-France Region, France

Site Status RECRUITING

Countries

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France

Central Contacts

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Alnylam Clinical Trial Information Line

Role: CONTACT

Phone: 1-877-ALNYLAM

Email: [email protected]

Other Identifiers

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ALN-TTR-NT-003

Identifier Type: -

Identifier Source: org_study_id