Epigenetic Signature for CRC Early Detection

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-06-21

Study Completion Date

2026-06-18

Brief Summary

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The epiCED is a noninvasive blood-based assay designed for early detection of colorectal cancer (CRC) using circulating cell-free DNA (cfDNA) 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) epigenetic markers. This study leverages retrospective, multi-center cohorts of CRC patients and non-cancer controls to discover and validate a robust cfDNA methylation signature. Small-scale sequencing and machine learning-based modeling will be applied to identify a minimal panel of methylation markers that can accurately discriminate CRC from non-cancer individuals, including early-stage disease. The ultimate goal is to develop a clinically practical, noninvasive screening tool that enables population-level early detection and improves patient outcomes.

Detailed Description

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The epiCED is a noninvasive, blood-based approach aimed at early detection of colorectal cancer (CRC) using circulating cell-free DNA (cfDNA) 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) epigenetic markers. Early detection of CRC is critical for improving patient outcomes, but current diagnostic tools-including colonoscopy, CT, and MRI-are either invasive, costly, or insufficiently sensitive for early-stage disease, limiting their use for population-wide screening.

This study will utilize retrospective, multi-center cohorts comprising adult participants (≥18 years) with confirmed CRC and non-cancer controls, including healthy volunteers and individuals with benign gastrointestinal conditions. Blood samples will be subjected to cfDNA extraction and small-scale epigenetic sequencing to profile 5mC and 5hmC patterns.

During the discovery phase, differential methylation analysis and machine learning-based feature selection will be applied to identify a minimal set of cfDNA methylation markers that optimally discriminate CRC from non-cancer individuals. In the training and validation phase, the identified signature will be evaluated across independent international multi-center cohorts to ensure reproducibility, robustness, and early-stage detection performance.

The primary objectives are to:

* Develop a cfDNA methylation panel capable of accurately distinguishing CRC patients from non-cancer controls.
* Validate the panel's ability to detect early-stage CRC.
* Secondary objectives include evaluating the association of the methylation signature with clinical parameters, tumor stage, and demographic factors. By integrating high-resolution cfDNA methylation profiling with advanced computational modeling, epiCED aims to provide a scalable, cost-effective, and clinically practical tool for noninvasive early detection of colorectal cancer.

Conditions

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Colorectal Cancer (Diagnosis) Non-cancer Controls DNA Methylation Cell Free DNA Early Detection of Cancer

Keywords

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noninvasive screening circulating cfDNA 5mC 5hmC epigenetic biomarkers machine learning colorectal cancer early detection

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

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CRC

Adult patients with confirmed colorectal cancer from international centers.

No interventions assigned to this group

Control

Non-cancer individuals, including healthy volunteers or patients with benign gastrointestinal conditions.

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Adults aged ≥18 years at the time of sample collection.
* Patients with confirmed CRC or non-cancer controls.
* Availability of retrospective blood samples collected according to institutional protocols.
* Willingness to allow use of de-identified clinical and demographic data.

Exclusion Criteria

* Concurrent malignancies outside the gastrointestinal tract (unless in complete remission ≥5 years).
* Samples with insufficient volume or poor cfDNA quality.
* Recent chemotherapy, radiotherapy, or major surgery within 4 weeks prior to blood collection (if prospective samples).
* Any condition precluding reliable sample analysis or participation.

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Ajay Goel, PhD

Role: PRINCIPAL_INVESTIGATOR

City of Hope Medical Center

Locations

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City of Hope Nat Medical Ctr

Monrovia, California, United States

Site Status

Countries

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United States

References

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Goddard KAB, Feuer EJ, Mandelblatt JS, Meza R, Holford TR, Jeon J, Lansdorp-Vogelaar I, Gulati R, Stout NK, Howlader N, Knudsen AB, Miller D, Caswell-Jin JL, Schechter CB, Etzioni R, Trentham-Dietz A, Kurian AW, Plevritis SK, Hampton JM, Stein S, Sun LP, Umar A, Castle PE. Estimation of Cancer Deaths Averted From Prevention, Screening, and Treatment Efforts, 1975-2020. JAMA Oncol. 2025 Feb 1;11(2):162-167. doi: 10.1001/jamaoncol.2024.5381.

Reference Type BACKGROUND

PMID: 39636625 (View on PubMed)

Bray F, Laversanne M, Sung H, Ferlay J, Siegel RL, Soerjomataram I, Jemal A. Global cancer statistics 2022: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2024 May-Jun;74(3):229-263. doi: 10.3322/caac.21834. Epub 2024 Apr 4.