Evaluation of a Rapid Test for the Detection of Methylation Profiles (Methylscape) in Various Body Fluids as a Universal Biomarker for Cancer Detection and Monitoring
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.
• 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.
⁃ Inclusion - Cancer cohort:
• 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.
• Inclusion - Cancer-free (healthy) cohort:
• 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.