Signature Development and Validation Protocol for an Epigenetic Assay in Diagnosing Breast Cancer

NCT07374796 | Not Yet Recruiting FDA Device

• 1 other identifier: HP-00117656
• Study Type: observational
• Target: 450
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this research study is to test a new process for diagnosing breast cancer by examining changes to your DNA that can be detected from a blood test. The information we learn by doing this study could potentially help people in the future. Participants in this study will have blood samples collected, have their medical records reviewed by study personnel and fill out questionnaires at different time points during the study. Blood sample collection will occur during normal routine clinic visits. Participation in this study will last approximately 5 years.

Conditions

Breast Cancer (Locally Advanced or Metastatic); Healthy Volunteers (HV); Unhealthy Volunteers; Breast Cancer Screening

Keywords

Breast Cancer; Breast Cancer Screening; Healthy Volunteers; Unhealthy Volunteers

Outcome Measures

Primary Outcomes (3)

• Identification of tumor-associated host methylation signature

  Genome-wide methylation profile of whole blood from lung cancer patients, pre-cancer patients, patients undergoing therapy, and control subjects.

  5 years

• Technology development

  The investigators will develop array-based assays using whole-blood samples, focused on disease-specific methylation sites to provide early diagnosis, prognosis, and therapeutic efficacy prediction.

  5 years

• Technology validation

  The investigators will validate identified blood-based circulating methylation signatures in patients with undiagnosed pulmonary nodules.

  5 years

Secondary Outcomes (3)

• EORTC QLQ-C30 Questionnaire

  5 years

• EORTC QLQ-BR45 Questionnaire

  5 years

• SF-36v2 Questionnaire

  5 years

Study Arms (3)

Study Population 1

This study population will consist of individuals who have a diagnosis of breast cancer and have not received chemotherapy treatment for their breast cancer. Individuals who have received surgical resection and/or radiation therapy and/or endocrine therapy for their breast cancer will be included.

Other: Epigenetic Assay

Study Population 2

This study population will consist of individuals who have a diagnosis of breast cancer and have received chemotherapy treatment for their breast cancer. All stages of breast cancer will be included including individuals in remission.

Other: Epigenetic Assay

Study Population 3

This study population will consist of individuals who are at high risk of developing breast cancer.

Other: Epigenetic Assay

Interventions

Epigenetic Assay OTHER

Up to 15 ml of blood will be collected from each patient at various time points throughout their 5 years of participation. DNA extraction, bisulfite conversion and analysis of epigenetic markers through PCR or next-generation sequencing will be performed. An epigenetic signature assay will then be identified.

Study Population 1; Study Population 2; Study Population 3

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

Study participants will be selected from patients being cared for across the University of Maryland Medical System

You may qualify if:

• years old or older
• Patient of UMMS
• Willing and able to consent to study procedures listed in the protocol
• Ability to speak and understand English

You may not qualify if:

• Younger than 18 years old
• Patient not cared for at UMMS
• Unable to consent to study procedures listed in the protocol
• Unable to speak or understand English

Sponsors & Collaborators

• University of Maryland, Baltimore: lead
• EPOCH Epigenetics, Inc: collaborator

Study Sites (1)

University of Maryland Baltimore Washington Medical Center

Glen Burnie, Maryland, 21061, United States

Location

Related Publications (1)

• Li Y, Fan Z, Meng Y, Liu S, Zhan H. Blood-based DNA methylation signatures in cancer: A systematic review. Biochim Biophys Acta Mol Basis Dis. 2023 Jan 1;1869(1):166583. doi: 10.1016/j.bbadis.2022.166583. Epub 2022 Oct 18.

  PMID: 36270476 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Peripheral Blood Mononuclear Cells (PBMC)

MeSH Terms

Conditions

Breast Neoplasms; Neoplasm Metastasis

Condition Hierarchy (Ancestors)

Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Neoplastic Processes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Jennifer Emel, MA

CONTACT

410-553-8048; Jennifer.Emel@umm.edu

Sade Bademosi

CONTACT

410-553-8188; Sade.Bademosi@umm.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Chair, Division of Pulmonary & Critical Care; Director, Interventional Pulmonary Program

Study Record Dates

• First Submitted: January 20, 2026
• First Posted: January 29, 2026
• Study Start (Estimated): June 1, 2026
• Primary Completion (Estimated): June 1, 2032
• Study Completion (Estimated): July 1, 2032
• Last Updated: April 22, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)