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

NCT07008664 | Recruiting FDA Device

• 1 other identifier: HP-00110218
• Study Type: observational
• Target: 750
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this research study is to test a new process for diagnosing lung 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

Lung Cancer; Lung Cancer Screening; Healthy Volunteers (HV); Unhealthy Volunteers

Keywords

Lung Cancer; Lung 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.

  1 year

Secondary Outcomes (3)

• EORTC QLQ-C30 Questionnaire

  5 years

• EORTC QLQ-LC13 Questionnaire

  5 years

• SF-36v2 Questionnaire

  5 years

Study Arms (5)

Study Population 1

This study population will consist of individuals who have a new diagnosis of lung cancer and have not received chemotherapy treatment for their lung cancer. Individuals who have received surgical resection or stereotactic body radiation therapy (SBRT) for their lung cancer will be included.

Other: Epigenetic Signature Assay

Study Population 2

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

Other: Epigenetic Signature Assay

Study Population 3

This study population will consist of individuals who are at high risk of developing lung cancer, such as people with a long smoking history, and are receiving yearly lung screening scans.

Other: Epigenetic Signature Assay

Study Population 4

This study population will consist of individuals who may be hospitalized for another condition such as pneumonia or heart failure at time of enrollment into the study. Individuals who have a greater than 10 pack year history of smoking will not be included in this population.

Other: Epigenetic Signature Assay

Study Population 5

This study population will consist of individuals who have no other significant medical problems.

Other: Epigenetic Signature Assay

Interventions

Epigenetic Signature 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; Study Population 4; Study Population 5

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 at the University of Maryland Baltimore Washington Medical Center

You may qualify if:

• years old or older
• Patient at University of Maryland Baltimore Washington Medical Center
• 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 University of Maryland Baltimore Washington Medical Center
• 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

RECRUITING

Related Publications (6)

• 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

• Terp SK, Stoico MP, Dybkaer K, Pedersen IS. Early diagnosis of ovarian cancer based on methylation profiles in peripheral blood cell-free DNA: a systematic review. Clin Epigenetics. 2023 Feb 14;15(1):24. doi: 10.1186/s13148-023-01440-w.

  PMID: 36788585 BACKGROUND

• Ibrahim J, Peeters M, Van Camp G, Op de Beeck K. Methylation biomarkers for early cancer detection and diagnosis: Current and future perspectives. Eur J Cancer. 2023 Jan;178:91-113. doi: 10.1016/j.ejca.2022.10.015. Epub 2022 Oct 27.

  PMID: 36427394 BACKGROUND

• Guo Y, Yin J, Dai Y, Guan Y, Chen P, Chen Y, Huang C, Lu YJ, Zhang L, Song D. A Novel CpG Methylation Risk Indicator for Predicting Prognosis in Bladder Cancer. Front Cell Dev Biol. 2021 Sep 1;9:642650. doi: 10.3389/fcell.2021.642650. eCollection 2021.

  PMID: 34540821 BACKGROUND

• Xie Y, Li P, Sun D, Qi Q, Ma S, Zhao Y, Zhang S, Wang T, Wang J, Li S, Gong T, Xu H, Xiong M, Li G, You C, Luo Z, Li J, Wang C, Du L. DNA Methylation-Based Testing in Peripheral Blood Mononuclear Cells Enables Accurate and Early Detection of Colorectal Cancer. Cancer Res. 2023 Nov 1;83(21):3636-3649. doi: 10.1158/0008-5472.CAN-22-3402.

  PMID: 37602818 BACKGROUND

• Wang T, Li P, Qi Q, Zhang S, Xie Y, Wang J, Liu S, Ma S, Li S, Gong T, Xu H, Xiong M, Li G, You C, Luo Z, Li J, Du L, Wang C. A multiplex blood-based assay targeting DNA methylation in PBMCs enables early detection of breast cancer. Nat Commun. 2023 Aug 7;14(1):4724. doi: 10.1038/s41467-023-40389-5.

  PMID: 37550304 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Peripheral Blood Mononuclear Cells (PBMC)

MeSH Terms

Conditions

Lung Neoplasms

Condition Hierarchy (Ancestors)

Respiratory Tract Neoplasms; Thoracic Neoplasms; Neoplasms by Site; Neoplasms; Lung Diseases; Respiratory Tract Diseases

Central Study Contacts

McKenzie Bedra, MPH

CONTACT

410-553-8184; McKenzie.Bedra@umm.edu

Jennifer Emel, MA

CONTACT

410-553-8048; Jennifer.Emel@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 and Critical Care Medicine; Associate Chair, Department of Medicine

Study Record Dates

• First Submitted: May 28, 2025
• First Posted: June 6, 2025
• Study Start: March 31, 2025
• Primary Completion (Estimated): April 1, 2031
• Study Completion (Estimated): April 1, 2032
• Last Updated: June 11, 2025

Record last verified: 2025-06

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)