Evaluating a blood biomarker in asymptomatic carriers and patients with hereditary amyloidosis
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
This study is testing if a blood marker called neurofilament light chain can help identify and track the progress of hereditary amyloidosis in people who have the condition and those who carry the gene but don’t show symptoms yet.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Sex | All |
| Sponsor | Alnylam Pharmaceuticals Industry-sponsored |
| Locations | 1 site (Paris, Île-de-France Region) |
| Trial ID | NCT06360289 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on the neurofilament light chain (NfL) as a potential biomarker for diagnosing and monitoring hereditary transthyretin-mediated amyloidosis. The study involves collecting blood samples from both asymptomatic carriers of TTR variants and patients diagnosed with symptomatic hATTR amyloidosis. Participants will have their NfL levels measured at a single point in time and over a longitudinal period to assess disease progression and treatment response. Data will be gathered from medical records and routine clinical assessments.
Who should consider this trial
Good fit: Ideal candidates include asymptomatic carriers of TTR variants at risk of developing hATTR amyloidosis and patients already diagnosed with hATTR amyloidosis with polyneuropathy.
Not a fit: Patients with conditions other than hATTR amyloidosis that may affect nerve damage or NfL levels will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide a reliable biomarker for early diagnosis and monitoring of hereditary amyloidosis, potentially leading to better patient outcomes.
How similar studies have performed: While the use of NfL as a biomarker is gaining interest, this specific approach in the context of hereditary transthyretin-mediated amyloidosis is relatively novel and has not been extensively tested in prior studies.
Eligibility criteria
Show full inclusion / exclusion 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) \<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.
Where this trial is running
Paris, Île-de-France Region
- Centre Hospitalier Universitaire (CHU) Le Kremlin-Bicêtre Assistance Publique-Hôpitaux de Paris (APHP) — Paris, Île-de-France Region, France (Recruiting)
Study contacts
- Study coordinator: Alnylam Clinical Trial Information Line
- Email: clinicaltrials@alnylam.com
- Phone: 1-877-ALNYLAM
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.