Diagnosis of Multiple Cancer and Monitoring of Minimal Residual Tumors After Treatment Using Blood and High-Sensitivity Genetic Analysis Techniques

Recruiting

• Conditions: Lung Neoplasms; Pancreatic Neoplasms; Colorectal Neoplasms; Esophageal Neoplasms; Ovarian Neoplasms; Stomach Neoplasms; Neoplasm Micrometastasis; Neoplasms

• Registration Number: NCT07035587
• Lead Sponsor: Yonsei University

Brief Summary

This is a combined prospective and retrospective observational study aiming to validate a highly sensitive and specific blood-based method for the early diagnosis and post-treatment monitoring of multiple cancers. The study leverages a newly developed sequencing method to improve the detection of circulating tumor DNA (ctDNA) in blood, focusing on enhancing sensitivity and specificity in clinical applications.

The study targets patients with ovarian, lung, pancreatic, colorectal, esophageal, breast, kidney, bladder, and gastric cancer, as well as healthy controls with asymptomatic gallstones, benign polyps, or individuals undergoing routine medical screening. Blood samples will be analyzed for cell-free DNA (cfDNA), RNA, and protein profiles. A key objective is to determine how much the newly developed method increases the sensitivity and specificity of ctDNA detection, especially in early-stage cancers and minimal residual disease (MRD) after treatment.

The method evaluates the variant allele frequency (VAF) of ctDNA to detect residual disease and track tumor dynamics. Serial blood sampling will be conducted before and after surgery or chemotherapy and during follow-up outpatient visits in cancer patients, while one-time sampling will be done for controls. Additionally, tissue biopsies collected during surgery will be used to analyze concordance between tumor-specific mutations and those found in ctDNA.

Primary outcome measures include quantitative differences in ctDNA or RNA levels between cancer and control groups. Secondary outcomes assess the clinical correlation between changes in ctDNA VAF and patient outcomes such as recurrence and survival. Statistical tools including ROC curve analysis, Cox regression, and log-rank tests will be used to quantify performance.

This study seeks to establish a clinically robust, non-invasive diagnostic tool that enables earlier detection and more precise treatment decisions, while potentially reducing physical, psychological, and socioeconomic burdens related to cancer care.

Detailed Description

Not available

Study Timeline

• Study Start: 2024-08-21
• Status Verified: 2025-06
• Study First Submitted: 2025-06-15
• Study First Submitted QC: 2025-06-15
• Last Update Submitted: 2025-06-15
• Study First Posted: 2025-06-25
• Last Update Posted: 2025-06-25
• Primary Completion: 2029-07-28
• Study Completion: 2029-07-28

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1200

Inclusion Criteria

• Age ≥ 19 years
• Voluntarily agreed to participate and provided informed consent
• Able to donate blood without health risks
• Underwent or is scheduled to undergo surgery or chemotherapy for therapeutic purposes for cancer (for cancer group)
• Diagnosed with one of the following cancers: ovarian, lung, pancreatic, colorectal, esophageal, breast, bladder, kidney, or gastric cancer
• Control group: asymptomatic individuals with gallstones or benign polyps, or subjects undergoing routine health screenings
• Control group must have confirmed benign findings through imaging (ultrasound, CT, LDCT, colonoscopy)

Exclusion Criteria

• Age < 19 years
• Patients with mental retardation or severe psychiatric disorders affecting informed consent
• History of HIV, HTLV, or syphilis infection
• History of other malignancy within 5 years (for cancer group)
• No somatic mutation detected in tumor or pre-treatment cfDNA (for cancer group)
• Control group with any past or current cancer diagnosis
• Control group with high-grade adenoma, symptomatic gallstones/polyps, or recent (<6 months) abdominal surgery
• Pregnant or breastfeeding women
• Any other reason deemed inappropriate by the investigator

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Difference in significantly detected ctDNA Variant Allele Frequency (VAF) between Cancer Patients and Controls	At baseline and up to 66 months post-enrollment	Quantitative measurement of significantly detected ctDNA variant allele frequency (VAF) in plasma samples from blood collected at baseline and follow-up visits (every 3-12 months up to 2 years) will be used to assess sensitivity and specificity of the developed sequencing method in detecting cancer-associated mutations. ROC curve analysis will be applied to determine the method's diagnostic performance (e.g., AUC).

Secondary Outcome Measures

Name	Time	Method
Correlation between ctDNA VAF and Clinical Outcomes (Recurrence and Survival)	Baseline and follow-up at 3-12 month intervals, up to 36 months	To evaluate the relationship between ctDNA variant allele frequency (VAF) changes and patient clinical outcomes, including recurrence free and overall survival. Longitudinal VAF trends will be correlated with disease progression. Additionally, concordance between ctDNA mutations and matched tumor tissue mutations will be assessed. In patients receiving chemotherapy, detection of resistance-related mutations in ctDNA will be evaluated for associations with treatment outcomes. Survival analysis will use Cox regression and log-rank tests.

Trial Locations

Locations (1)

Department of Pharmacology, Yonsei University College of Medicine; 🇰🇷 Seoul, Korea, Republic of