Methylation Profile Test (Methylscape) in Body Fluids for Multi-Cancer Detection and Monitoring in Colombia

NCT07741435 | Recruiting

• 2 other identifiers: MethylscapeCEI-183
• Study Type: observational
• Target: 3,250
• Locations: 1 country
• Sites: 1

Brief Summary

DNA methylation changes occur early and broadly during carcinogenesis. Methylscape is a rapid assay that detects global DNA methylation patterns in body fluids (blood, urine, and saliva) and may detect a cancer signal and predict the cancer signal origin (CSO) from a single fluid sample, using the differential interaction between methylated and unmethylated DNA and gold nanoparticles. This prospective observational study evaluates the diagnostic performance (sensitivity and specificity) of the Methylscape test in Colombian patients with various biopsy-confirmed solid tumors compared with age- and sex-matched cancer-free (healthy) volunteers. The study is conducted in three parts: Phase 1 validates the assay in 250 patients with cancer; Sub-study 2a compares 1,500 patients with cancer against 1,500 matched cancer-free volunteers; and Sub-study 2b uses serial blood and urine sampling in 300 patients with early-stage disease to assess detection of disease relapse during follow-up, in parallel with standard imaging. The study also estimates positive and negative predictive values (PPV/NPV) and projects the budget impact and cost-effectiveness of Methylscape as a multi-cancer early detection (MCED) tool in an upper-middle-income Latin American setting.

Conditions

Neoplasms; Solid Tumor; Breast Neoplasms; Lung Neoplasms; Stomach Neoplasms; Uterine Cervical Neoplasms; Colorectal Neoplasms; Urologic Neoplasms; Head and Neck Neoplasms; Early Detection of Cancer; Neoplasm Recurrence, Local

Keywords

DNA methylation; Liquid biopsy; Cell-free DNA (cfDNA); Multi-cancer early detection (MCED); Methylscape; Cancer signal origin; Minimal residual disease; Methylation biomarker; Cancer screening; Colombia

Outcome Measures

Primary Outcomes (2)

• Sensitivity of the Methylscape test for cancer-signal detection, as assessed against histopathological confirmation as the reference standard

  Percentage of participants with biopsy-confirmed cancer who have a positive Methylscape result (cancer signal detected). Reported overall and by subgroup (cancer stage per AJCC 8th ed. and cancer type per ICD-O); all subgroups use the same unit. Adjusted by GLOBOCAN 2022 incidence.

  Baseline

• Specificity of the Methylscape test for cancer-signal detection, as assessed against absence of cancer confirmed by medical-record review and 12-month follow-up

  Percentage of confirmed cancer-free volunteers who have a negative Methylscape result (no cancer signal detected).

  12 months

Secondary Outcomes (2)

• Accuracy of Methylscape cancer-signal-origin (CSO) prediction, measured as the percentage of cases in which the predicted tissue of origin matches the histopathologically confirmed primary tumor site

  Baseline

• Sensitivity and specificity of serial Methylscape testing for detection of disease relapse, as assessed against imaging response (RECIST 1.1) or biopsy of local recurrence

  At 6, 12, 18, and 24 months

Other Outcomes (4)

• Positive and negative predictive value (PPV and NPV) of Methylscape for cancer-signal detection

  Up to 12 months

• Diagnostic performance of Methylscape in cancers with versus without established screening programs

  Up to 12 months

• Budget impact of implementing Methylscape as a multi-cancer early detection strategy

  Through study completion, an average of 24 months

Study Arms (2)

Patients with cancer

Colombian adults (≥18 y) with biopsy-confirmed solid tumors (behavior code 3, ICD-O-3) diagnosed within 90 days and untreated. Provide blood, urine, saliva, and FFPE tumor tissue for Methylscape testing. An early-stage subset is followed with serial blood/urine sampling for relapse detection (Sub-study 2b).

Diagnostic Test: Methylscape DNA methylation assay

Cancer-free (healthy) volunteers

Colombian adults (≥18 y) without cancer diagnosis or treatment in the prior 3 years, matched to cancer patients by sex, age, race/ethnicity, and BMI. Provide blood, urine, and saliva for Methylscape testing (Sub-study 2a).

Diagnostic Test: Methylscape DNA methylation assay

Interventions

Methylscape DNA methylation assay DIAGNOSTIC_TEST

Rapid assay measuring global DNA methylation patterns in body fluids (blood/plasma, urine, saliva) and FFPE tumor tissue via differential adsorption of methylated vs. unmethylated DNA on gold electrodes (differential pulse voltammetry), to detect a cancer signal and predict the cancer signal origin (CSO). Applied to both groups; no therapeutic intervention is administered.

Cancer-free (healthy) volunteers; Patients with cancer

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Colombian adults (≥18 years) with biopsy-confirmed solid tumors selected by local incidence (emphasis on breast, lung, and gastric cancer) and age- and sex-matched cancer-free volunteers, recruited at a single cancer center (CTIC) in Bogotá, Colombia.

You may qualify if:

• Adults aged 18 years or older.
• Willing and able to participate and to provide the required samples (blood, urine, saliva) and demographic information (age, sex, race/ethnicity, BMI).
• Able to provide written informed consent for participation and for use of biological samples. For CTIC Biobank samples, prior research-use consent is verified.
• Demographic/anthropometric comparability (race, ethnicity, BMI) with other participants; race/ethnicity by self-identification (WHO and national census categories); BMI per WHO categories.
• Cancer diagnosis confirmed within 90 days prior to sample collection.
• Biopsy-proven malignancy with radiological staging.
• No anticancer treatment at the time of collection or within the previous 3 years.
• No cancer diagnosis or treatment in the previous 3 years (ICD-O-3 behavior code 2 or 3).
• Not under evaluation for suspected cancer (verified by medical record review or additional medical evaluation).
• Subjects with benign tumors (code 0) or tumors of uncertain behavior (code 1) may be included if there is no clinical evidence of progression or malignancy.
• Additional criteria - tumor-burden monitoring (Sub-study 2b):
• Biopsy-confirmed cancer.
• ECOG performance status ≤ 2.

You may not qualify if:

• Pregnancy.
• Organ transplant recipients.
• Use of demethylating agents (azacitidine, decitabine) or cytotoxic agents (including for autoimmune/inflammatory conditions).
• Prior or ongoing anticancer therapy: cancer surgery beyond that needed for diagnosis; local, regional, or systemic chemotherapy (including chemoembolization); targeted therapy; immunotherapy (including cancer vaccines); hormonal therapy; or radiotherapy.

Sponsors & Collaborators

• Centro de Tratamiento e Investigación sobre Cáncer, Luis Carlos Sarmiento Angulo: lead

Study Sites (1)

Fundación CTIC Centro de Tratamiento e Investigación sobre Cáncer Luis Carlos Sarmiento Angulo

Bogotá, Bogota D.C., 110131, Colombia

RECRUITING

Related Publications (11)

• Sina AA, Carrascosa LG, Liang Z, Grewal YS, Wardiana A, Shiddiky MJA, Gardiner RA, Samaratunga H, Gandhi MK, Scott RJ, Korbie D, Trau M. Epigenetically reprogrammed methylation landscape drives the DNA self-assembly and serves as a universal cancer biomarker. Nat Commun. 2018 Dec 4;9(1):4915. doi: 10.1038/s41467-018-07214-w.

  PMID: 30514834 BACKGROUND

• Bretthauer M, Wieszczy P, Loberg M, Kaminski MF, Werner TF, Helsingen LM, Mori Y, Holme O, Adami HO, Kalager M. Estimated Lifetime Gained With Cancer Screening Tests: A Meta-Analysis of Randomized Clinical Trials. JAMA Intern Med. 2023 Nov 1;183(11):1196-1203. doi: 10.1001/jamainternmed.2023.3798.

  PMID: 37639247 BACKGROUND

• Welch HG, Bergmark R. Cancer Screening, Incidental Detection, and Overdiagnosis. Clin Chem. 2024 Jan 4;70(1):179-189. doi: 10.1093/clinchem/hvad127.

  PMID: 37757858 BACKGROUND

• Tafazzoli A, Ramsey SD, Shaul A, Chavan A, Ye W, Kansal AR, Ofman J, Fendrick AM. The Potential Value-Based Price of a Multi-Cancer Early Detection Genomic Blood Test to Complement Current Single Cancer Screening in the USA. Pharmacoeconomics. 2022 Nov;40(11):1107-1117. doi: 10.1007/s40273-022-01181-3. Epub 2022 Aug 30.

  PMID: 36038710 BACKGROUND

• Nicholson BD, Oke J, Virdee PS, Harris DA, O'Doherty C, Park JE, Hamady Z, Sehgal V, Millar A, Medley L, Tonner S, Vargova M, Engonidou L, Riahi K, Luan Y, Hiom S, Kumar H, Nandani H, Kurtzman KN, Yu LM, Freestone C, Pearson S, Hobbs FR, Perera R, Middleton MR. Multi-cancer early detection test in symptomatic patients referred for cancer investigation in England and Wales (SYMPLIFY): a large-scale, observational cohort study. Lancet Oncol. 2023 Jul;24(7):733-743. doi: 10.1016/S1470-2045(23)00277-2. Epub 2023 Jun 20.

  PMID: 37352875 BACKGROUND

• Minasian LM, Pinsky P, Katki HA, Dickherber T, Han PKJ, Harris L, Patriotis C, Srivastava S, Weil CJ, Prorok PC, Castle PE. Study design considerations for trials to evaluate multicancer early detection assays for clinical utility. J Natl Cancer Inst. 2023 Mar 9;115(3):250-257. doi: 10.1093/jnci/djac218.

  PMID: 36458902 BACKGROUND

• Klein EA, Richards D, Cohn A, Tummala M, Lapham R, Cosgrove D, Chung G, Clement J, Gao J, Hunkapiller N, Jamshidi A, Kurtzman KN, Seiden MV, Swanton C, Liu MC. Clinical validation of a targeted methylation-based multi-cancer early detection test using an independent validation set. Ann Oncol. 2021 Sep;32(9):1167-1177. doi: 10.1016/j.annonc.2021.05.806. Epub 2021 Jun 24.

  PMID: 34176681 BACKGROUND

• LeeVan E, Pinsky P. Predictive Performance of Cell-Free Nucleic Acid-Based Multi-Cancer Early Detection Tests: A Systematic Review. Clin Chem. 2024 Jan 4;70(1):90-101. doi: 10.1093/clinchem/hvad134.

  PMID: 37791504 BACKGROUND

• Cohen JD, Li L, Wang Y, Thoburn C, Afsari B, Danilova L, Douville C, Javed AA, Wong F, Mattox A, Hruban RH, Wolfgang CL, Goggins MG, Dal Molin M, Wang TL, Roden R, Klein AP, Ptak J, Dobbyn L, Schaefer J, Silliman N, Popoli M, Vogelstein JT, Browne JD, Schoen RE, Brand RE, Tie J, Gibbs P, Wong HL, Mansfield AS, Jen J, Hanash SM, Falconi M, Allen PJ, Zhou S, Bettegowda C, Diaz LA Jr, Tomasetti C, Kinzler KW, Vogelstein B, Lennon AM, Papadopoulos N. Detection and localization of surgically resectable cancers with a multi-analyte blood test. Science. 2018 Feb 23;359(6378):926-930. doi: 10.1126/science.aar3247. Epub 2018 Jan 18.

  PMID: 29348365 BACKGROUND

• Hackshaw A, Clarke CA, Hartman AR. New genomic technologies for multi-cancer early detection: Rethinking the scope of cancer screening. Cancer Cell. 2022 Feb 14;40(2):109-113. doi: 10.1016/j.ccell.2022.01.012. Epub 2022 Feb 3.

  PMID: 35120599 BACKGROUND

• Smith RA, Andrews KS, Brooks D, Fedewa SA, Manassaram-Baptiste D, Saslow D, Wender RC. Cancer screening in the United States, 2019: A review of current American Cancer Society guidelines and current issues in cancer screening. CA Cancer J Clin. 2019 May;69(3):184-210. doi: 10.3322/caac.21557. Epub 2019 Mar 15.

  PMID: 30875085 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Blood/plasma (K2EDTA), urine, saliva, and FFPE tumor tissue, stored at -80 °C in the CTIC biobank with traceability, for DNA / cell-free DNA (cfDNA) methylation analysis.

MeSH Terms

Conditions

Neoplasms; Breast Neoplasms; Lung Neoplasms; Stomach Neoplasms; Uterine Cervical Neoplasms; Colorectal Neoplasms; Urologic Neoplasms; Head and Neck Neoplasms; Neoplasm Recurrence, Local; Neoplasm, Residual

Condition Hierarchy (Ancestors)

Neoplasms by Site; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Respiratory Tract Neoplasms; Thoracic Neoplasms; Lung Diseases; Respiratory Tract Diseases; Gastrointestinal Neoplasms; Digestive System Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Stomach Diseases; Uterine Neoplasms; Genital Neoplasms, Female; Urogenital Neoplasms; Uterine Cervical Diseases; Uterine Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases; Intestinal Neoplasms; Colonic Diseases; Intestinal Diseases; Rectal Diseases; Male Urogenital Diseases; Urologic Diseases; Neoplastic Processes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Andrés Cardona, MD, MSc, PhD, MBA

CONTACT

+573016348173; acardona@fctic.org

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 23, 2026
• First Posted: August 3, 2026
• Study Start: June 5, 2025
• Primary Completion (Estimated): June 4, 2027
• Study Completion (Estimated): January 15, 2028
• Last Updated: August 3, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will share
• Shared Documents: CSR
• Time Frame: Data will become available beginning 6 months after publication of the primary results and will remain available until 5 years after the study completion date, consistent with the institutional data-retention period.
• Access Criteria: Access will be granted to qualified researchers whose proposed use has been approved by the study sponsor and the Comité de Ética en Investigación. Requestors must submit a methodologically sound research proposal and execute a data access/use agreement. Requests should be directed to the principal investigator. Data will be shared through a secure, controlled-access mechanism, and no personally identifiable information will be released.

Locations

CO (1)