A Prospective Study of Plasma Genotyping as a Noninvasive Biomarker for Genotype-directed Cancer Care

NCT02279004 | Active Not Recruiting DMC

• 1 other identifier: 14-147
• Study Type: observational
• Target: 840
• Locations: 1 country
• Sites: 1

Brief Summary

Tumor genotyping has become an essential biomarker for the care of advanced lung cancer and melanoma, and is currently used to identify patients for treatment with targeted kinase inhibitors like erlotinib and vemurafenib. However, tumor genotyping can be slow and cumbersome, and is limited by availability of tumor biopsy tissue for testing. The aim of this study is to prospectively evaluate a blood-based genotyping tool that can quantify the presence of oncogenic mutations (EGFR, KRAS, BRAF) in patients with lung cancer and melanoma. This assay is being studied both as a diagnostic tool for classifying patient genotype, and a serial measurement tool for quantification of response and progression on therapy.

Conditions

NSCLC; Melanoma

Keywords

Plasma Genotyping; NSCLC; Melanoma

Outcome Measures

Primary Outcomes (1)

• Accuracy of Plasma Genotyping Assay

  We will determine the accuracy of a droplet digital PCR (ddPCR)-based plasma genotyping assay in performing noninvasive tumor genotyping.

  2 years

Secondary Outcomes (3)

• Turnaround Time of Plasma Genotyping Assay

  2 years

• Early Treatment Failure

  2 years

• Accuracy of Plasma NGS

  2 years

Study Arms (4)

Newly Diagnosed Patients

Newly diagnosed patients with advanced NSCLC or melanoma with complete or planned tissue genotyping.

Acquired Resistance Patients

NSCLC patients with a known EGFR mutation or other targetable mutation and acquired resistance to initial kinase inhibitor therapy.

Known Genotype Patients

NSCLC patients with a known genomic alteration detectable by ddPCR-based plasma genotyping and planned to start a new line of therapy.

Advanced NSCLC

Advanced NSCLC patients with a biopsy planned for tissue genotyping.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with NSCLC and advanced melanoma that are either newly diagnosed, have acquired resistance to kinase inhibitor therapy or have a known targetable mutation and are beginning a new line of therapy.

You may qualify if:

• To participate in this study a participant must meet the eligibility of one of the following cohorts:
• Cohort 1: Cancers beginning initial treatment
• One of the following diagnoses:
• Cohort 1A (CLOSED):
• Advanced non-squamous NSCLC (including adenosquamous)
• Cohort 1B:
• Stage II-III non-squamous NSCLC (including adenosquamous)
• Stage IIIB-IV melanoma
• Patient must be planned to begin initial therapy, or completely resected before or after receiving adjuvant therapy
• For patients with NSCLC, EGFR and KRAS genotype may be known or unknown
• For patients with melanoma, BRAF and NRAS genotype may be known or unknown
• For patients without tumor genotyping, there must be a plan for genotyping including either:
• Archived tumor tissue available and planned for genotyping
• A biopsy at some future time is anticipated and will be available for genotyping
• Cohort 2: Cancers with acquired resistance to targeted therapy

You may not qualify if:

• Participants who are unable to provide informed consent
• Participants who are 18 years of age or younger
• Participants who are unable to comply with the study procedures

Sponsors & Collaborators

• Dana-Farber Cancer Institute: lead
• Damon Runyon Cancer Research Foundation: collaborator

Study Sites (1)

Dana-Farber Cancer Institute

Boston, Massachusetts, 02215, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Cell-free plasma DNA (cfDNA) derived from tumor cells

MeSH Terms

Conditions

Melanoma

Condition Hierarchy (Ancestors)

Neuroendocrine Tumors; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Nerve Tissue; Nevi and Melanomas; Skin Neoplasms; Neoplasms by Site; Skin Diseases; Skin and Connective Tissue Diseases

Study Officials

• Julia Rotow, M.D.

  Dana-Farber Cancer Institute

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: October 28, 2014
• First Posted: October 30, 2014
• Study Start: July 3, 2014
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: April 27, 2026

Record last verified: 2026-04

Locations

US (1)