Prospective Evaluation of NfL as a Biomarker in ATTRv

NCT05879874 | Active Not Recruiting

• 1 other identifier: ID5545
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

Brief Summary

ATTR amyloidosis is a rare and progressively disabling disease caused by the deposition of misfolded TTR protein in multiple tissues including the nerves, heart, and gastrointestinal tract. Polyneuropathy (PN) and cardiomyopathy (CM) are the two most frequent phenotypes and many patients presented a mixed picture of PN and CM. There are different methods to search for the existence and extent of PN and disability caused by ATTR amyloidosis (e.g. mNIS+7, Norfol, QoL-DN), these methods may not be sensitive enough to search for the onset of disease in patients carrying the pathogenic TTR variants or progression of PN in patients undergoing treatment. Also, some of the available methods can be difficult and time-consuming to perform. For this reason, there is a need for sensitive biomarkers that can aid in the investigation and follow-up of PN in patients with hATTR amyloidosis. NfL, a well-known biomarker of nerve damage due to both central and peripheral nervous system disorders, was recently evaluated as a potential biomarker of nerve damage in patients with hATTR amyloidosis. The results of this study can help understand the potential value of NfL in patients with PN of hATTR amyloidosis establishing i changes levels of this biomarker in response to different pathology-specific treatment options correlation between NfL levels and different ratings clinics. The primary objective of the study is to establish the potential of NfL as a biomarker of severity of polyneuropathy, progression and response to treatment in patients with symptomatic hATTR amyloidosis.

Conditions

Amyloidosis, Hereditary

Keywords

ATTRv; NfL; Disease progression; Disease severity

Outcome Measures

Primary Outcomes (1)

• Change in NfL values

  To establish the potential of NfL as a biomarker of severity of polyneuropathy, progression and response to treatment in patients with symptomatic hATTR amyloidosis, in terms of serum NfL levels of patients with hATTR amyloidosis at baseline and after 9 and 18 months of follow-up.and response to treatment in patients with symptomatic in hATTR

  9 and 18 months

Secondary Outcomes (1)

• NfL levels correlation

  9 and 18 months

Eligibility Criteria

• Age: 18 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adults with hATTR amyloidosis with polyneuropathy with a pathogenic TTR mutation (NIS score between 5 and 130 points at baseline) will be enrolled in accordance with the criteria defined in the clinical practice guidelines related to the reference center (FPG).

You may qualify if:

• Adult patients with hATTR amyloidosis with polyneuropathy with a confirmed TTR disease-causing mutation (NIS score between 5 and 130 points at baseline).
• Patients on hATTR amyloidosis therapy with gene silencers (patisiran or inotersen) and TTR stabilizers (tafamidis at doses of 20 or 61 mg).
• Patients who gave consent to participate in the study.

You may not qualify if:

• Patients aged \< 18 years
• Pregnant women
• Patients who refused to give their consent to participate in the study.

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead

Study Sites (1)

Fondazione Policlinico Gemelli IRCCS

Rome, Italy

Location

MeSH Terms

Conditions

Amyloidosis, Familial; Disease Progression

Condition Hierarchy (Ancestors)

Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Amyloidosis; Proteostasis Deficiencies; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Marco Luigetti

  Fondazione Policlinico Universitario A. Gemelli, IRCCS

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 9, 2023
• First Posted: May 30, 2023
• Study Start: September 1, 2023
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): June 1, 2026
• Last Updated: August 14, 2025

Record last verified: 2025-08

Locations

IT (1)