AGED Diagnostics Liver Disease Assessment

Early Phase 1UnknownNCT06348563

Active Genomes Expressed Diagnostics, Corp400 enrolled

Overview

Continue development of previously established methods to further validate candidate biomarkers that can discriminate steatosis from NASH and separately stage fibrosis from blood. The first assessment is to conduct test method verification to expand sample size to several hundred samples through whole genome sequencing methods. The second assessment is focused on biomarker validation by comparing targeted sequencing from patient plasma. Several sub- assessments will be conducted to support overall biomarker development efforts.

Aim 1: Test Method Verification, Whole genome bisulfite sequencing assessment for liver tissue and plasma Conduct whole genome bisulfite sequencing in patient liver tissue and patient plasma to identified candidate biomarkers that can discriminate between steatosis and NASH, and separately conduct a comparative analysis of patient liver tissue and patient plasma samples to assess NASH encompassing NASH with mild fibrosis, NASH with significant fibrosis and NASH with advanced fibrosis. The purpose of each is to identify a set of markers that have biological relevance on the liver and then identify epigenetic biomarkers in plasma derived from liver tissue. Note: both a subset of NASH specific biomarkers and fibrosis specific biomarkers have been previously reported for technical feasibility. Aim 2: Biomarker Validation, Targeted Epigenetic Sequencing Assessment Select top NASH specific biomarkers and top fibrosis specific biomarkers and design, develop and test probes to assess overall performance of each candidate biomarker in plasma. Conduct comparative analysis between various targeted sequencing and PCR based modalities. Candidate biomarker performance will be evaluated based on sensitivity, specificity, AUROC and reproducibility, among several other assessments.

Study Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

DIAGNOSTIC

Masking

SINGLE

Enrollment

400

Conditions

NASH With Fibrosis NAFLD Healthy

Interventions

AGED Multiple Target Assay in Healthy ControlsDIAGNOSTIC_TEST

Analysis of blood based cfDNA/cfRNA biomarkers found at defined concentrations in participant samples that correlates to healthy controls

AGED Multiple Target Assay in NAFLD ParticipantsDIAGNOSTIC_TEST

Analysis of blood based cfDNA/cfRNA biomarkers found at defined concentrations in participant samples that correlates to NAFLD participants (defined as simple steatosis through NASH)

AGED Multiple Target Assay in Fibrosis ParticipantsDIAGNOSTIC_TEST

Analysis of blood based cfDNA/cfRNA biomarkers found at defined concentrations in participant samples that correlates to liver fibrosis stage (F0-F4)

Eligibility

Sex: ALLMin age: 18 YearsMax age: 65 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: * Participant with liver biopsy over the past 1-2 years are permissible for study inclusion. * Participant is considered to be a "Healthy Subject" relative to any form of liver disease OR * Participant is suspected of having one of the following diagnoses: metabolic syndrome, NAFLD, fibrosis/cirrhosis, cardiovascular disease, chronic kidney disease. Exclusion Criteria: * Participant is known to have HIV, Hepatitis B or Hepatitis C * Participant has any other known form of chronic liver disease (aside from NAFLD/liver fibrosis) * Participant has excess alcohol intake, excess alcohol is defined as participants that exceed an average 20g of alcohol daily for females (140g weekly intake) and average 30g of alcohol daily for males (210g weekly intake) * Participant has had a bone marrow transplant at any time * Participant is on anti-coagulation or anti-platelet therapy * Participant is known to be pregnant * Participant is unable to provide informed consent

Locations (1)

AGED Diagnostics

Bethesda, Maryland, United States

Outcomes

Primary Outcomes

Test Method Verification, Whole genome bisulfite sequencing assessment for liver tissue and plasma

Conduct whole genome bisulfite sequencing in patient liver tissue and patient plasma to identified candidate biomarkers that can discriminate between steatosis and NASH, and a separate assessment that can stage liver fibrosis.

Time frame: 6-9 months

Secondary Outcomes

Biomarker Validation, Targeted Epigenetic Sequencing Assessment

Select top NASH specific biomarkers and top fibrosis specific biomarkers and design, develop and test probes to assess overall performance of each candidate biomarker in plasma through multiple targeted sequencing and PCR based modalities.

Time frame: 6-9 months

Data from ClinicalTrials.gov

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