DNA Evaluation of Fragments for Early Interception - Lung Cancer Training Study (DELFI-L101 Study) (DELFI-L101)

The primary objective of this study, DELFI-L101, is to train and test classifiers for lung cancer detection using the DELFI assay and other biomarker and clinical features.

Study Overview

• Status: Completed
• Conditions: Kidney Cancer; Stomach Cancer; Head and Neck Cancer; Colorectal Cancer; Esophageal Cancer; Lung Cancer; Bladder Cancer; Skin Cancer; Pancreas Cancer; Liver Cancer
• Intervention / Treatment: Other: Blood Sample Collection

Detailed Description

Subjects will be enrolled into the DELFI-L101 study after informed consent and eligibility is confirmed. At enrollment, subjects will have blood specimens collected (~40 mL) and 12 months post-enrollment their medical records will be reviewed.

• Study Type: Observational
• Enrollment (Actual): 2992

Contacts and Locations

Study Locations

• Puerto Rico
  • San Juan, Puerto Rico, 00953
    • Pan American Center for Oncology Trials
• United States
  • Alabama
    • Homewood, Alabama, United States, 35209
      • Central Alabama Research
  • Arizona
    • Peoria, Arizona, United States, 85381
      • Phoenix Medical Group
  • Arkansas
    • Fayetteville, Arkansas, United States, 72703
      • Highlands Oncology Group - Fayetteville
  • California
    • Burlingame, California, United States, 94010
      • Pulmonary Associates of Burlingame
    • Los Angeles, California, United States, 90027
      • Kaiser Permanente Los Angeles Medical Center
    • Torrance, California, United States, 90505
      • Torrance Memorial Physician Network - Cancer Care
  • Colorado
    • Colorado Springs, Colorado, United States, 80907
      • Centura Health
    • Denver, Colorado, United States, 80206
      • National Jewish Health
    • Grand Junction, Colorado, United States, 81501
      • St. Mary's Hospital and Regional Medical
  • Connecticut
    • New Britain, Connecticut, United States, 06051
      • Starling Physicians
    • Stamford, Connecticut, United States, 06904
      • Stamford Health
  • Florida
    • Clearwater, Florida, United States, 33756
      • Baycare
    • Coral Springs, Florida, United States, 33065
      • Oncology & Hematology Associates of West Broward
    • Fort Lauderdale, Florida, United States, 33308
      • Holy Cross Hospital Cancer Center
    • Miami, Florida, United States, 33176
      • Miami Cancer Institute
    • Orlando, Florida, United States, 32803
      • Charter Research - The Villages
    • Port Charlotte, Florida, United States, 33952
      • Millennium Physicians Group, LLC
    • The Villages, Florida, United States, 32162
      • Charter Research - The Villages
  • Georgia
    • Dacula, Georgia, United States, 30019
      • Pulmonary and Sleep Specialists of Northeast Georgia - Dacula
  • Illinois
    • Champaign, Illinois, United States, 61822
      • Christie Clinic
    • Joliet, Illinois, United States, 60435
      • Duly Health and Care
    • Naperville, Illinois, United States, 60540
      • Edward-Elmhurst Healthcare
  • Iowa
    • West Des Moines, Iowa, United States, 50266
      • The Iowa Clinic
  • Kansas
    • Hutchinson, Kansas, United States, 67502
      • Hutchinson Clinic
  • Kentucky
    • Louisville, Kentucky, United States, 40207
      • Louisville Pulmonary Care, PLLC
  • Massachusetts
    • Boston, Massachusetts, United States, 02114
      • Massachusetts General Hospital
  • Minnesota
    • Rochester, Minnesota, United States, 55905
      • Mayo Clinic
  • Mississippi
    • Gulfport, Mississippi, United States, 39051
      • Memorial Gulfport
  • Missouri
    • Saint Louis, Missouri, United States, 63131
      • Missouri Baptist Medical Center
    • Saint Louis, Missouri, United States, 63110
      • Washington University at St. Louis
  • New Jersey
    • Englewood, New Jersey, United States, 07631
      • Holy Name Pulmonary Associates
    • Morristown, New Jersey, United States, 07960
      • Atlantic Digestive Health Institute
    • Mountain Lakes, New Jersey, United States, 07046
      • Oncology Hematology Specialists
    • Sewell, New Jersey, United States, 08080
      • MedCorps Asthma and Pulmonary Specialists - Sewell
  • New York
    • Bronx, New York, United States, 10455
      • CHEAR Center LLC
    • New York, New York, United States, 10065
      • Memorial Sloan Kettering Cancer Center
    • New York, New York, United States, 10075
      • Northwell Health
  • North Carolina
    • Chapel Hill, North Carolina, United States, 27599
      • University of North Carolina At Chapel Hill
    • Greenville, North Carolina, United States, 27834
      • East Carolina University
    • Statesville, North Carolina, United States, 28625
      • Piedmont Healthcare
    • Wilmington, North Carolina, United States, 28401
      • Wilmington Health
  • Ohio
    • Cincinnati, Ohio, United States, 45219
      • University of Cincinnati
    • Cleveland, Ohio, United States, 44195
      • The Cleveland Clinic Foundation
  • Oregon
    • Portland, Oregon, United States, 97239
      • Oregon Health & Science University
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • University of Pennsylvania
    • Pittsburgh, Pennsylvania, United States, 15224
      • Allegheny Health Network
    • Wyomissing, Pennsylvania, United States, 19610
      • Respiratory Specialists, Ltd.
    • York, Pennsylvania, United States, 17403
      • Cancer Care Associates of York
  • South Carolina
    • Charleston, South Carolina, United States, 29425
      • Medical University of South Carolina
    • Charleston, South Carolina, United States, 29401
      • Ralph H. Johnson Veterans Affairs Medical Center
  • Tennessee
    • Memphis, Tennessee, United States, 38120
      • Baptist Cancer Center
  • Texas
    • Austin, Texas, United States, 78735
      • Premier Family Physicians
    • Austin, Texas, United States, 78726
      • Austin Regional Clinic ARC Clinical Research at Wilson Parke
    • Conroe, Texas, United States, 77304
      • Pulmonary Critical Care & Sleep Associates, P.A.
    • Huntsville, Texas, United States, 77340
      • Huntsville Research Institute, LLC
  • Wisconsin
    • Waukesha, Wisconsin, United States, 53188
      • ProHealth Care

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 50 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Individuals ≥ 50 years of age who are eligible for lung cancer screening from medical, surgical, sub- specialty clinics, lung cancer screening, lung nodule, thoracic surgery, and chest clinic practices.

Description

Inclusion Criteria:

All Participants:

1. Ability to understand and provide written informed consent
2. Age ≥ 50 years
3. Current or Former Smoker

4. ≥ 20 pack-years (pack years = number of packs per day X number of years smoked)

   Inclusion Group 1: High Risk Patients that meet criteria 5 and 6 below:

5. Prior thoracic imaging with computed tomography (CT) within 12 months of enrollment (CT imaging for lung cancer screening for participants meeting inclusion criteria 6a and 6b; or CT imaging for lung cancer screening or diagnostic CT for participants meeting inclusion criteria 6c)

   OR Planned thoracic imaging (CT) as part of standard of care within 6 weeks of enrollment (CT imaging for lung cancer screening for participants meeting inclusion criteria 6a and 6b; or CT imaging for lung cancer screening or diagnostic CT for participants meeting inclusion criteria 6c)

   AND

6. Meet one of the criteria below:

   1. No suspected or confirmed lung cancer diagnosis OR
   2. Suspected of lung cancer OR
   3. Confirmed, untreated lung cancer

   Inclusion Group 2: High Risk Patients that meet the following criteria:

7. Pathologic confirmed, invasive non-lung cancer diagnosis, originating from the esophagus (upper), colon or rectum, pancreas, stomach (including lower esophagus), head and neck, skin (excluding cutaneous basal cell and squamous cell carcinoma) kidney, or liver, with no prior systemic therapy, definitive therapy, radiation, or surgical resection.

OR Clinically confirmed invasive non-lung cancer diagnosis originating from the pancreas, kidney, or liver, based on imaging and clinical judgment with planned treatment and no prior systemic therapy, definitive therapy, radiation, or surgical resection.

OR Clinically (based on imaging and clinical judgment) or pathologically confirmed non-invasive or invasive bladder cancer with planned treatment and no prior systemic therapy, definitive therapy, radiation or surgical resection.

Exclusion Criteria:

All Participants:

1. Prior systemic therapy, definitive therapy, radiation, or surgical resection for cancer within one year prior to enrollment (with the exception of organ biopsies or surgery for non-melanoma skin cancer)
2. Any history of hematologic malignancies or myelodysplasia
3. Any history of organ tissue transplantation
4. Any history of blood product transfusion
5. Current pregnancy
6. Any condition that in the opinion of the Investigator should preclude the participant's participation in the study
7. Prior systemic therapy, definitive therapy, radiation, or surgical resection for the enrollment cancer diagnosis (with the exception of organ biopsies or surgery for non-melanoma skin cancer are not exclusionary)
8. Enrollment in any DELFI sponsored study

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Control
• Time Perspectives: Prospective

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Individuals eligible for Lung Cancer screening with Lung Cancer diagnosis	Other: Blood Sample Collection; Subjects enrolled in the DELFI-L101 will have blood specimens collected (~40 mL) at enrollment.
Individuals eligible for Lung Cancer screening with no cancer diagnosis	Other: Blood Sample Collection; Subjects enrolled in the DELFI-L101 will have blood specimens collected (~40 mL) at enrollment.
Individuals eligible for Lung Cancer screening with Non-Lung Cancer diagnosis	Other: Blood Sample Collection; Subjects enrolled in the DELFI-L101 will have blood specimens collected (~40 mL) at enrollment.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Accuracy of lung cancer detection measured by sensitivity, specificity, and the AUC of the ROC.	Approximately 12 months

Secondary Outcome Measures

Outcome Measure	Time Frame
Accuracy (sensitivity and specificity) in clinical subgroups of interest	Approximately 12 months
Accuracy of tumor of origin (confusion matrix of predicted versus actual cancer type)	Approximately 12 months
Adverse events (AEs) associated with the blood specimen collection	Point in time of blood specimen collection (1day) at enrollment
Analytical performance (e.g. repeatability/reproducibility)	Approximately 12 months
Accuracy of multi-cancer detection measured by sensitivity, specificity, and the AUC of the ROC and tissue of origin (TOO) accuracy	Approximately 12 months
Prevalence-based measures, including positive predictive value (PPV), negative predictive value (NPV), and number needed to screen (NNS)	Approximately 12 months
Expected distribution of the DELFI score in the intended use population and clinical subgroups of interest	Approximately 12 months
Association of genomic features with clinical subgroups of interest	Approximately 12 months

Collaborators and Investigators

• Sponsor: Delfi Diagnostics Inc.
• Investigators: Principal Investigator: Peter Mazzone, MD, MPH, The Cleveland Clinic; Principal Investigator: Luke RG Pike, MD, DPhil, Memorial Sloan Kettering Cancer Center

Publications and helpful links

General Publications

• Mazzone PJ, Bach PB, Carey J, Schonewolf CA, Bognar K, Ahluwalia MS, Cruz-Correa M, Gierada D, Kotagiri S, Lloyd K, Maldonado F, Ortendahl JD, Sequist LV, Silvestri GA, Tanner N, Thompson JC, Vachani A, Wong KK, Zaidi AH, Catallini J, Gershman A, Lumbard K, Millberg LK, Nawrocki J, Portwood C, Rangnekar A, Sheridan CC, Trivedi N, Wu T, Zong Y, Cotton L, Ryan A, Cisar C, Leal A, Dracopoli N, Scharpf RB, Velculescu VE, Pike LRG. Clinical Validation of a Cell-Free DNA Fragmentome Assay for Augmentation of Lung Cancer Early Detection. Cancer Discov. 2024 Nov 1;14(11):2224-2242. doi: 10.1158/2159-8290.CD-24-0519.

Study record dates

Study Major Dates

• Study Start (Actual): March 22, 2021
• Primary Completion (Actual): July 15, 2025
• Study Completion (Actual): July 15, 2025

Study Registration Dates

• First Submitted: March 29, 2021
• First Submitted That Met QC Criteria: March 30, 2021
• First Posted (Actual): April 1, 2021

Study Record Updates

• Last Update Posted (Actual): August 8, 2025
• Last Update Submitted That Met QC Criteria: August 5, 2025
• Last Verified: August 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Urogenital Diseases; Endocrine System Diseases; Urogenital Neoplasms; Neoplasms by Site; Neoplasms; Male Urogenital Diseases; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Respiratory Tract Diseases; Gastrointestinal Neoplasms; Digestive System Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Stomach Diseases; Lung Diseases; Endocrine Gland Neoplasms; Pancreatic Diseases; Respiratory Tract Neoplasms; Thoracic Neoplasms; Urologic Neoplasms; Stomach Neoplasms; Lung Neoplasms; Pancreatic Neoplasms; Kidney Neoplasms
• Other Study ID Numbers: DELFI-L101 Study

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: Individual participant data that underline the results reported in publications of the study may be shared after de-identification. This may include text, tables, figures, and appendices. The study protocol, statistical analysis plan, and informed consent form will also be shared. Data may be shared with researchers who provide a methodologically sound proposal to achieve the aims outlined in the approved proposal.

Drug and device information, study documents

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