NCT06595498

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

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

• Status: Active Not Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 130 (actual)
• Sponsor: Istituto Oncologico Veneto IRCCS · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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)

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	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).
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).

Timeline

• Start date: 2024-07-01
• Primary completion: 2025-12-22
• Completion: 2026-06-30
• First posted: 2024-09-19
• Last updated: 2026-03-02

Locations

1 site across 1 country: Italy