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

NCT ID: NCT06595498

Last Updated: 2025-09-19

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 130 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2024-07-01
• Study Completion Date: 2026-01-01

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)

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: DIAGNOSTIC
• Blinding Strategy: NONE

Study Groups

SeqSensei™ Solid Cancer IVD Kit (Sysmex)

Group Type: EXPERIMENTAL

Plasma- SeqSensei™ Solid Cancer IVD Kit (Sysmex)

Intervention Type: 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).

cobas® EGFR Mutation Test v2 (Roche)

Group Type: ACTIVE_COMPARATOR

cobas® EGFR Mutation Test v2 (Roche)

Intervention Type: 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).

Interventions

Plasma- SeqSensei™ Solid Cancer IVD Kit (Sysmex)

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).

Intervention Type: DIAGNOSTIC_TEST

cobas® EGFR Mutation Test v2 (Roche)

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).

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

Inclusion Criteria

• 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.

Exclusion Criteria

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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Istituto Oncologico Veneto IRCCS

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Istituto Oncologico Veneto

Padua, , Italy

Site Status: RECRUITING

Countries

Italy

Central Contacts

Stefano Indraccolo, Prof

Role: CONTACT

stefano.indraccolo@iov.veneto.it

049 8215875

Gian Luca De Salvo, MD

Role: CONTACT

clinical.trial@iov.veneto.it

0498215704

Facility Contacts

Stefano Indraccolo, Prof

Role: primary

stefano.indraccolo@iov.veneto.it

049 8215875

Other Identifiers

RARE study

Identifier Type: -

Identifier Source: org_study_id