Hereditary Amyloidosis, Transthyretin-RelatedNCT06360289

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

An observational study of Hereditary Amyloidosis, Transthyretin-Related and Asymptomatic Carrier State, run by Alnylam Pharmaceuticals at 1 site in France.

Active, not recruiting

Under way, not looking for participants. Everyone needed has enrolled. The study is still running.

Official record

Search all trials

Trial 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. Read more about this study

Who is it for?: Any ageHealthy volunteers can take part
Conditions the study is for: Hereditary Amyloidosis, Transthyretin-Related, Asymptomatic Carrier State
How many people: 346 participants
Where: 1 siteFrance
Study dates: 25 Apr 2024to 15 Dec 2027
Phase: Observational

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

Ages Any age
All sexes
Healthy volunteers accepted
Child, Adult, Older adult

Study population: Study will include asymptomatic carriers of TTR variants or symptomatic patients with hATTR amyloidosis with polyneuropathy who review and confirm their understanding of the Patient Information Sheet (PIS) provided and do not oppose participating in the study at Centre Hospitalier Universitaire (CHU) Le Kremlin-Bicêtre Assistance Publique-Hôpitaux de Paris (APHP).

Who may be able to join

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.

Who cannot join

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.

Trial locations and contacts

1 site in 1 country.

France1 site

Centre Hospitalier Universitaire (CHU) Le Kremlin-Bicêtre Assistance Publique-Hôpitaux de Paris (APHP)
Paris, Île-de-France Region, 94270

Other trials in France

About this study

Official title: 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

Read the 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.

Conditions: Hereditary Amyloidosis, Transthyretin-Related, Asymptomatic Carrier State
Being tested: Standard of Care
Medical subject headings: Amyloidosis, Hereditary, Transthyretin-Related

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Standard of CareOther
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.

Study groups in NCT06360289
Study group	Role	What they receive
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. Receives: Other: Standard of Care
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. Receives: Other: Standard of Care

What is being measured

The primary outcome is the main question the study is designed to answer.

NfL Levels in Asymptomatic Carriers of a TTR Variant and Symptomatic hATTR Patients With Polyneuropathy at Baseline
Measured: Baseline
Change in NfL Levels Over Time in Asymptomatic Carriers of a TTR Variant and Symptomatic hATTR Patients With Polyneuropathy
Measured: Up to 24 months

Secondary outcomes (5)

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
Measured: Baseline
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
Measured: Up to 24 months
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
Measured: Baseline, 24 months
Time to Onset of Active Disease in Asymptomatic Carriers of TTR Variants
Measured: Up to 24 Months
Disease Progression in Symptomatic hATTR Amyloidosis Patients with Polyneuropathy
Measured: Up to 24 Months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

25 Apr 202415 Dec 2027

First posted11 Apr 2024
Study start25 Apr 2024
Primary completion15 Dec 2027 (estimated)
Study completion15 Dec 2027 (estimated)

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Other trials for Hereditary Amyloidosis, Transthyretin-RelatedStudies of the same condition, open and under way.
More trials run by Alnylam PharmaceuticalsThe sponsor's other registered studies.
What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design

Study type: Observational
Observational model: Cohort
Time perspective: Prospective
Enrolment: 346 participants (actual)

IDs, dates and publications

ClinicalTrials.gov ID: NCT06360289
Sponsor's protocol ID: ALN-TTR-NT-003
Status last verified: Oct 2026
First submitted: 8 Apr 2024
Last updated: 15 Oct 2026
Results posted: No
Data monitoring committee: No
FDA-regulated drug: No
FDA-regulated device: No
Individual data sharing: No

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

See locations

Enrolling by invitationPhase 3
A Study to Evaluate Vutrisiran in Patients With Transthyretin Amyloidosis With Cardiomyopathy
Transthyretin Amyloidosis (ATTR) With Cardiomyopathy
RecruitingObservational study
ConTTRibute: A Global Observational Study of Patients With Transthyretin (TTR)-Mediated Amyloidosis (ATTR Amyloidosis)
Transthyretin-Mediated Amyloidosis, ATTR Amyloidosis
RecruitingObservational study
A Study to Learn About the Use of Acoramidis in Patients With a Heart Condition Called Transthyretin Amyloid Cardiomyopathy (ATTR-CM) in a Real-world Setting
Transthyretin Amyloid Cardiomyopathy (ATTR-CM)
RecruitingObservational study
Non-interventional Study of Patients With Transthyretin (ATTR) Amyloidosis
Transthyretin Amyloidosis, ATTR-CM
RecruitingObservational study
Long-term Safety of Eplontersen Treated aTTR Patients and in Liver Transplant and Severely Hepatic Impaired Subpopulations
Transthyretin Amyloidosis, Transthyretin Amyloidosis With Cardiomyopathy

All Hereditary Amyloidosis, Transthyretin-Related trials