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

Recruiting

• Conditions: Lung Cancer; Lung Cancer Screening; Healthy Volunteers (HV); Unhealthy Volunteers

• Registration Number: NCT07008664
• Lead Sponsor: University of Maryland, Baltimore

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.

Detailed Description

This clinical testing research study outlines the validation process for an epigenetic assay targeting host peripheral blood cell and the associated host DNA methylation signatures designed to diagnose lung cancer. The overall protocol process will involve three distinct stages representing three patient cohorts with up to 250 subjects per cohort across 5 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 will include the following patient populations with up to 50 patients per population:

1. Lung cancer; No chemotherapy. Surgical resection or stereotactic body radiation therapy (SBRT) only

2. Lung cancer; With chemotherapy. All stages including remission

3. At risk group (Lung cancer screening population)

4. Control group with mixed comorbid disease EXCLUDING tobacco use of greater than 10 pack years (PY) or chronic obstructive pulmonary disease (COPD)

5. Healthy controls with no comorbid disease

Study Timeline

• Study Start: 2025-03-31
• Study First Submitted: 2025-05-28
• Study First Submitted QC: 2025-05-28
• Status Verified: 2025-06
• Last Update Submitted: 2025-06-05
• Study First Posted: 2025-06-06
• Last Update Posted: 2025-06-11
• Primary Completion: 2031-04
• Study Completion: 2032-04

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 750

Inclusion Criteria

• 18 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

Exclusion Criteria

• 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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Identification of tumor-associated host methylation signature	5 years	Genome-wide methylation profile of whole blood from lung cancer patients, pre-cancer patients, patients undergoing therapy, and control subjects.
Technology development	5 years	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.
Technology validation	1 year	The investigators will validate identified blood-based circulating methylation signatures in patients with undiagnosed pulmonary nodules.

Secondary Outcome Measures

Name	Time	Method
EORTC QLQ-C30 Questionnaire	5 years	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.
EORTC QLQ-LC13 Questionnaire	5 years	The European Organization for Research and Treatment of Cancer quality of life questionnaire module on Lung Cancer, EORTC QLQ-LC13, is a supplementary questionnaire meant to be used in conjunction with the full QLQ-C30. The QLQ-LC13 incorporates one multi-item scale to assess dyspnea, and a series of single items assessing pain, coughing, sore mouth, dysphagia, peripheral neuropathy, alopecia, and hemoptysis. 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.
SF-36v2 Questionnaire	5 years	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.

Trial Locations

Locations (1)

University of Maryland Baltimore Washington Medical Center; 🇺🇸 Glen Burnie, Maryland, United States