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

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.

Study Overview

• Status: Not yet recruiting
• Conditions: Breast Cancer Screening; Healthy Volunteers (HV); Unhealthy Volunteers; Breast Cancer (Locally Advanced or Metastatic)
• Intervention / Treatment: Other: Epigenetic Assay

Detailed Description

This clinical testing protocol outlines the validation process for an epigenetic assay targeting host peripheral blood cell and the associated host DNA methylation signatures designed to diagnose breast cancer. The overall protocol process will involve three distinct stages representing three patient cohorts with up to 150 subjects per cohort across 3 populations of patients. Cohort one will act as signature development phase; cohort two will act as signature finalization phase; and cohort three will act as a validation cohort phase. Each cohort with include the following patient populations with up to 50 patients per population:

1. Breast cancer, NO chemotherapy. Includes patients treated with surgical resection and/or radiation therapy and/or endocrine therapy
2. Breast cancer who have received chemotherapy. Includes all stages including remission
3. At risk group (patients at increased risk for breast cancer followed in a high risk breast program)

• Study Type: Observational
• Enrollment (Estimated): 450

Contacts and Locations

• Study Contact: Name: Jennifer Emel, MA; Phone Number: 410-553-8048; Email: Jennifer.Emel@umm.edu
• Study Contact Backup: Name: Sade Bademosi; Phone Number: 410-553-8188; Email: Sade.Bademosi@umm.edu

Study Locations

• United States
  • Maryland
    • Glen Burnie, Maryland, United States, 21061
      • University of Maryland Baltimore Washington Medical Center
      • Contact: Peter Olivieri, MD; Phone Number: 410-553-8241; Email: polivieri@umm.edu
      • Sub-Investigator: Cynthia Drogula, MD
      • Sub-Investigator: Jeffrey Marshall, MD
      • Sub-Investigator: Harvinder Singh, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

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

Description

Inclusion Criteria:

• 18 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

Exclusion Criteria:

• 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

Study Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
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; 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 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; 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 3; This study population will consist of individuals who are at high risk of developing breast cancer.	Other: Epigenetic Assay; 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
EORTC QLQ-C30 Questionnaire	The European Organization for Research and Treatment of Cancer core quality of life questionnaire, (EORTC QLQ-C30) is a cancer-specific quality of life instrument designed to assess health-related quality of life of cancer patients and is intended to be supplemented by disease-specific questionnaires, such as the lung cancer specific module, the EORTC QLQ-LC13. The EORTC QLQ-C30 incorporates nine multi-item scales including five functional scales (Physical, Role, Cognitive, Emotional and Social Functioning); three symptom scales (Fatigue, Pain and Nausea/Vomiting); and a Global Health Status/QoL scale. Six single item scales are also included (Dyspnea, Insomnia, Appetite Loss, Constipation, Diarrhea and Financial Difficulties). All of the scales and single-item measures range in score from 0 to 100. A higher score represents a higher level of symptom burden.	5 years
SF-36v2 Questionnaire	The short-form of 36 questions (SF-36v2) is a multipurpose, 36-item survey that measures eight domains of health: physical functioning, role limitations due to physical health, bodily pain, general health perceptions, vitality, social functioning, role limitations due to emotional problems, and mental health. It yields scale scores for each of these eight health domains, and two summary measures of physical and mental health. Higher scores indicate better health status.	5 years
EORTC QLQ-BR45 Questionnaire	EORTC QLQ-BR45 is a supplementary questionnaire module to be employed in conjunction with the QLQ-C30. The QLQ-BR45 incorporates nine multi-item scales to assess body image, sexual functioning, breast satisfaction, systemic therapy side effects, arm symptoms, breast symptoms, endocrine therapy symptoms, skin mucosis symptoms, endocrine sexual symptoms. In addition, single items assess sexual enjoyment, future perspective and being upset by hair loss. All of the scales and single item measures range in score from 0 to 100. A high score for the functional scales and functional single items represents a high/healthy level of functioning, whereas a high score for the symptom scales and symptom item represents a high level of symptomatology or problems.	5 years

Collaborators and Investigators

• Sponsor: University of Maryland, Baltimore
• Collaborators: EPOCH Epigenetics, Inc

Publications and helpful links

General Publications

• 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.

Study record dates

Study Major Dates

• Study Start (Estimated): June 1, 2026
• Primary Completion (Estimated): June 1, 2032
• Study Completion (Estimated): July 1, 2032

Study Registration Dates

• First Submitted: January 20, 2026
• First Submitted That Met QC Criteria: January 20, 2026
• First Posted (Actual): January 29, 2026

Study Record Updates

• Last Update Posted (Actual): April 22, 2026
• Last Update Submitted That Met QC Criteria: April 21, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Keywords: Breast Cancer; Healthy Volunteers; Breast Cancer Screening; Unhealthy Volunteers
• Additional Relevant MeSH Terms: Pathologic Processes; Neoplasms by Site; Neoplasms; Neoplastic Processes; Skin Diseases; Breast Diseases; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Breast Neoplasms; Neoplasm Metastasis
• Other Study ID Numbers: HP-00117656

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: Yes
• product manufactured in and exported from the U.S.: No