Next Generation Sequencing Method for the Detection of EGFR Gene Mutations in the Plasma of Patients With Lung Cancer

NCT06595498 | Active Not Recruiting

• 1 other identifier: RARE study
• Study Type: interventional
• Target: 130
• Locations: 1 country
• Sites: 1

Brief Summary

The study aims to evaluate the Plasma-SeqSensei™ Solid Cancer IVD Kit NGS diagnostic test (Sysmex) before its introduction into routine diagnostics. This is a test for research of EGFR mutations in cfDNA that needs to be evaluated in a patient population with lung adenocarcinoma already characterized for EGFR mutations by a molecular test of reference. The proposed study does not present any risk to participants.

Conditions

Carcinoma, Non-small Cell Lung Cancer (NSCLC)

Keywords

lung cancer; non-small cell lung cancer; EGFR mutation; Next Generation Sequencing; plasma

Outcome Measures

Primary Outcomes (1)

• Primary Outcome

  Evaluate the capability of the NGS test Plasma-SeqSensei™ Solid Cancer IVD Kit (Sysmex) in detecting a greater number of EGFR mutations compared to the diagnostic test routine cobas® EGFR Mutation Test v2 (Roche)

  Through study completion, an average of 1 year

Secondary Outcomes (1)

• Secondary Outcome

  Through study completion, an average of 1 year

Study Arms (2)

SeqSensei™ Solid Cancer IVD Kit (Sysmex)

EXPERIMENTAL

Diagnostic Test: Plasma- SeqSensei™ Solid Cancer IVD Kit (Sysmex)

cobas® EGFR Mutation Test v2 (Roche)

ACTIVE COMPARATOR

Diagnostic Test: cobas® EGFR Mutation Test v2 (Roche)

Interventions

Plasma- SeqSensei™ Solid Cancer IVD Kit (Sysmex) DIAGNOSTIC_TEST

The patients' blood has already been collected in Streck tubes for circulating DNA and the plasma has been stored at -80°C as per the procedure for the routine diagnostic test cobas EGFR Mutation Test v2. No further blood sampling will be required from patients. Circulating DNA/RNA will be extracted from 2-5 ml of plasma. The extracted cfDNA will be quantified. The libraries will be prepared using the NGS Plasma-SeqSensei™ Solid Cancer IVD Kit (Sysmex) and will be evaluated at the Tapestation (Agilent) to verify their quality and quantity using D1000 Screentapes. The libraries consisting of approximately 16 samples each will then be sequenced on an Illumina NextSeq 500 sequencer using the Illumina NextSeq 500/550 Mid Output Kit v2.5 (150 Cycles). Data analysis will be performed using Plasma-SeqSensei™ IVD Software (Sysmex).

SeqSensei™ Solid Cancer IVD Kit (Sysmex)

cobas® EGFR Mutation Test v2 (Roche) DIAGNOSTIC_TEST

The patients' blood has already been collected in Streck tubes for circulating DNA and the plasma has been stored at -80°C as per the procedure for the routine diagnostic test cobas EGFR Mutation Test v2. No further blood sampling will be required from patients. Circulating DNA/RNA will be extracted from 2-5 ml of plasma. The extracted cfDNA will be quantified. The libraries will be prepared using the cobas® EGFR Mutation Test v2 (Roche) and will be evaluated at the Tapestation (Agilent) to verify their quality and quantity using D1000 Screentapes. The libraries consisting of approximately 16 samples each will then be sequenced on an Illumina NextSeq 500 sequencer using the Illumina NextSeq 500/550 Mid Output Kit v2.5 (150 Cycles).

cobas® EGFR Mutation Test v2 (Roche)

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Males or Females aged at least 18 years;
• Patients with advanced or metastatic non-small cell lung cancer at diagnosis or progression who have previously had the cobas® EGFR Mutation Test v2 (Roche) performed on a liquid biopsy with a valid result (positive or negative);
• Availability of 6 mL of plasma.

You may not qualify if:

• Plasma not available in sufficient quantities to perform both tests;
• Cobas test with invalid result.

Sponsors & Collaborators

• Istituto Oncologico Veneto IRCCS: lead

Study Sites (1)

Istituto Oncologico Veneto

Padua, 35128, Italy

Location

MeSH Terms

Conditions

Carcinoma; Carcinoma, Non-Small-Cell Lung; Lung Neoplasms

Condition Hierarchy (Ancestors)

Neoplasms, Glandular and Epithelial; Neoplasms by Histologic Type; Neoplasms; Carcinoma, Bronchogenic; Bronchial Neoplasms; Respiratory Tract Neoplasms; Thoracic Neoplasms; Neoplasms by Site; Lung Diseases; Respiratory Tract Diseases

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 7, 2024
• First Posted: September 19, 2024
• Study Start: July 1, 2024
• Primary Completion: December 22, 2025
• Study Completion (Estimated): June 30, 2026
• Last Updated: March 2, 2026

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)