Bile ctDNA Genomic Profiling and Concordance With Tumor Tissue in Biliary Tract Cancer

NCT07830628 | Not Yet Recruiting

• 1 other identifier: CHAMC 2026-06-033
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

This study is being done to find out whether bile fluid can be used to detect genetic changes in tumors of patients with advanced biliary tract cancer (BTC), such as cancer of the bile ducts or gallbladder. Currently, doctors often use a sample of tumor tissue to look for genetic changes that can help guide treatment decisions, including the use of targeted therapies. However, in biliary tract cancer, it can be difficult or risky to collect enough tumor tissue for this kind of testing. This study will collect a small amount of leftover bile (about 20 mL) during a procedure that patients are already having for medical reasons (such as ERCP or PTBD, which are used to drain bile). A blood sample (about 20 mL) will also be collected at the same time patients are already having blood drawn as part of their regular care. No additional needle sticks or procedures will be done only for this study. Researchers will analyze the genetic material found in the bile and blood samples and compare the results with the genetic testing already done on the patient's tumor tissue. The main goal is to see how closely the genetic changes found in bile match those found in tumor tissue. The study will also look at whether bile testing can detect genetic changes that may help guide treatment, and whether these results are related to how patients respond to treatment and their long-term outcomes. About 100 patients with advanced biliary tract cancer will take part in this study at 4 hospitals in South Korea.

Conditions

Biliary Tract Cancer (BTC)

Keywords

Biliary Tract Cancer; Biomarker; Circulating Tumor DNA (ctDNA)

Outcome Measures

Primary Outcomes (1)

• Concordance rate of genetic variants between bile ctDNA and tumor tissue DNA

  Genetic variants detected by next-generation sequencing (NGS) of bile-derived circulating tumor DNA (ctDNA) will be compared with variants identified by tumor tissue NGS performed as part of standard clinical care. Concordance will be assessed using sensitivity and positive predictive value (PPV), with 90% confidence intervals.

  Baseline

Secondary Outcomes (3)

• Frequency of actionable genomic alterations detected in bile ctDNA

  Up to 24 months

• Concordance rate of genetic variants between bile ctDNA and plasma ctDNA

  Up to 24 months

• Mutation detection rate comparison among bile ctDNA, plasma ctDNA, and tumor tissue DNA

  Up to 24 months

Other Outcomes (3)

• Association between bile ctDNA maximum variant allele frequency (max VAF) and clinical outcomes

  Up to 24 months

• Characteristics of genetic variants uniquely detected in bile ctDNA

  Up to 24 months

• Identification of potential therapeutic targets through bile ctDNA-based genomic analysis

  Up to 24 months

Study Arms (1)

Advanced Biliary Tract Cancer Patients

Patients with histologically confirmed advanced or metastatic biliary tract cancer (intrahepatic cholangiocarcinoma, extrahepatic cholangiocarcinoma, or gallbladder cancer). Participants will provide bile samples for circulating tumor DNA (ctDNA) analysis before systemic therapy or prior to subsequent treatment.

Other: Bile Sampling for ctDNA Analysis

Interventions

Bile Sampling for ctDNA Analysis OTHER

Bile (approximately 20 mL) is collected once from patients with advanced biliary tract cancer, prior to first-line systemic therapy. The sample is obtained as residual fluid during a clinically indicated biliary drainage procedure (ERCP or PTBD); no additional invasive procedure is performed for research purposes. The sample is sent to an external laboratory for circulating tumor DNA (ctDNA) extraction and next-generation sequencing (NGS)-based genomic analysis, to evaluate concordance of genetic variants with tumor tissue DNA and, where available, plasma ctDNA.

Also known as: Liquid Biopsy; Bile Collection

Advanced Biliary Tract Cancer Patients

Eligibility Criteria

• Age: 19 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study population consists of adult patients with advanced (unresectable or metastatic) biliary tract cancer, including intrahepatic cholangiocarcinoma, extrahepatic cholangiocarcinoma, and gallbladder cancer, who are treated at 4 tertiary hospitals in South Korea. Eligible patients are those who are about to undergo clinically indicated biliary drainage (ERCP or PTBD) prior to first-line systemic anti-cancer therapy, from whom residual bile can be collected without any additional invasive procedure. Patients may be enrolled at the time of bile collection even before histologic confirmation of biliary tract cancer; however, only patients with subsequently confirmed histologic diagnosis are included in the final analysis. Enrollment is conducted on a competitive basis across participating sites, with a target of approximately 50% of enrolled patients having intrahepatic cholangiocarcinoma, given the higher frequency of actionable mutations in this subtype.

You may qualify if:

• Adult male or female patients aged 19 years or older
• Histologically confirmed advanced biliary tract cancer (intrahepatic cholangiocarcinoma, extrahepatic cholangiocarcinoma, or gallbladder cancer), or clinically suspected biliary tract cancer pending histologic confirmation
• Prior to first-line systemic anti-cancer therapy (patients who relapsed ≥6 months after curative surgery or adjuvant chemotherapy are eligible)
• Tumor tissue next-generation sequencing (NGS) already performed or planned
• Willing to provide blood and bile samples for ctDNA analysis

You may not qualify if:

• Patients from whom a bile sample cannot be obtained during clinically indicated biliary drainage (ERCP or PTBD)
• Patients who decline blood sampling for ctDNA testing
• Patients unable to provide informed consent

Sponsors & Collaborators

• CHA University: lead

Study Sites (1)

CHA Bundang Medical Center

Seongnam-si, Gyeonggi-do, 13496, South Korea

Location

Related Publications (4)

• Han JY, Ahn KS, Kim TS, Kim YH, Cho KB, Shin DW, Baek WK, Suh SI, Jang BC, Kang KJ. Liquid Biopsy from Bile-Circulating Tumor DNA in Patients with Biliary Tract Cancer. Cancers (Basel). 2021 Sep 12;13(18):4581. doi: 10.3390/cancers13184581.

  PMID: 34572808 BACKGROUND

• Gou Q, Zhang CZ, Sun ZH, Wu LG, Chen Y, Mo ZQ, Mai QC, He J, Zhou ZX, Shi F, Cui W, Zou W, Lv L, Zhuang WH, Xu RD, Li WK, Zhang J, Du HW, Xiang JX, Wang HZ, Hou T, Li ST, Li Y, Chen XM, Zhou ZJ. Cell-free DNA from bile outperformed plasma as a potential alternative to tissue biopsy in biliary tract cancer. ESMO Open. 2021 Dec;6(6):100275. doi: 10.1016/j.esmoop.2021.100275. Epub 2021 Oct 12.

  PMID: 34653800 BACKGROUND

• Li Z, Liu Y, Fu J, Mugaanyi J, Yan J, Lu C, Huang J. Bile is a reliable and valuable source to study cfDNA in biliary tract cancers. Front Oncol. 2022 Aug 26;12:961939. doi: 10.3389/fonc.2022.961939. eCollection 2022.

  PMID: 36091112 BACKGROUND

• Hwang S, Woo S, Kang B, Kang H, Kim JS, Lee SH, Kwon CI, Kyung DS, Kim HP, Kim G, Kim C, Chon HJ. Concordance of ctDNA and tissue genomic profiling in advanced biliary tract cancer. J Hepatol. 2025 Apr;82(4):649-657. doi: 10.1016/j.jhep.2024.10.020. Epub 2024 Oct 21.

  PMID: 39442892 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Bile

MeSH Terms

Conditions

Biliary Tract Neoplasms

Interventions

Liquid Biopsy

Condition Hierarchy (Ancestors)

Digestive System Neoplasms; Neoplasms by Site; Neoplasms; Biliary Tract Diseases; Digestive System Diseases

Intervention Hierarchy (Ancestors)

Biopsy; Cytodiagnosis; Cytological Techniques; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Specimen Handling; Investigative Techniques

Central Study Contacts

Hong Jae Chon, MD. PhD

CONTACT

82-31-780-3928; hongjaechon@gmail.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: September 15, 2026
• First Posted: September 21, 2026
• Study Start: September 1, 2026
• Primary Completion (Estimated): August 31, 2028
• Study Completion (Estimated): August 31, 2028
• Last Updated: September 21, 2026

Record last verified: 2026-09

Data Sharing

• IPD Sharing: Will not share

Locations

KR (1)