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Exploring Biomarkers in Hereditary Transthyretin Amyloidosis

NCT05929209 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 80

Last updated 2024-09-24

No results posted yet for this study

Summary

Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a severe and heterogeneous systemic condition due to mutations in the transthyretin (TTR) gene.

The availability of disease-modifying therapies has led to an urgent need to have reliable biomarkers capable of assessing the clinical severity of the disease and of monitoring the efficacy of pharmacological treatment. At the same time, early markers for the clinical onset of ATTRv amyloidosis in presymptomatic subjects are needed to enable earlier initiation of anti-amyloid therapy.

In this project the investigators seek to achieve three main goals: to identify and validate disease severity biomarkers in symptomatic patients; to establish disease onset biomarkers of ATTRv amyloidosis in presymptomatic subjects; to explore new pathogenetic mechanisms underlying this multisystem disorder, such as mitochondrial dysfunction and immune response.

Conditions

  • Hereditary Transthyretin Amyloidosis

Interventions

DIAGNOSTIC_TEST

Assessment of disease biomarkers

Assessment of serum, histological and radiological biomarkers

Sponsors & Collaborators

  • Fondazione Policlinico Universitario Agostino Gemelli IRCCS

    lead OTHER

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2023-05-01
Primary Completion
2025-12-31
Completion
2026-04-30

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05929209 on ClinicalTrials.gov