Personalized Molecular Profiling in Cancer Treatment at Johns Hopkins

NCT02965755 | Active Not Recruiting DMC

• 2 other identifiers: J16146IRB00117742
• Study Type: interventional
• Target: 200
• Locations: 1 country
• Sites: 2

Brief Summary

The goal of this research study is to determine if we can obtain personalized genetic information from a subject's blood sample that is similar to that obtained from a tumor tissue sample, and if we can use that information to make treatment suggestions.

Conditions

Metastatic Breast Cancer

Keywords

Metastatic Breast Cancer; Breast Cancer; Molecular profiling; Personalized medicine

Outcome Measures

Primary Outcomes (2)

• Ability of genetically profiling of ptDNA as assessed by identifying the proportion of genetic alterations in tumor tissue

  The proportion of genetic alterations in tumor tissue is detected via genetic profiling of ptDNA when those genetic alterations are present in the tumor at an allelic frequency \>10%.

  1 year

• Percentage of patients who cannot have NGS of metastatic site biopsy but have clinically actionable mutations detected via genetic profiling of ptDNA

  Percentage of patients for which genetic profiling of ptDNA would be more feasible when a metastatic biopsy cannot be acquired.

  1 year

Secondary Outcomes (2)

• Response as assessed by change in ptDNA level up to 2 weeks post-intervention. To determine whether a 10-fold decrease in allelic frequency of a given mutation in ptDNA after initiating new systemic therapy can predict for response to treatment.

  2 weeks

• Response as assessed by Change in Circulating tumor cell (CTC) counts

  Change from baseline up to 1 year

Study Arms (1)

Genetic profiling

OTHER

All participants will undergo genetic profiling. Archival tissue will be requested to undergo routine review for possible treatment recommendations. Blood samples will be obtained to study research correlates (plasma tumor DNA, ptDNA) and tissue comparison.

Other: Treatment recommendation

Interventions

Treatment recommendation OTHER

Depending on the results from the participant's archival tissue, a panel of Johns Hopkins investigators will meet to interpret the molecular and genetic profiling results in order to identify any actionable mutations to provide a personalized treatment recommendation for the patient.

Genetic profiling

Eligibility Criteria

• Age: 18 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Male or Female
• years of age or older
• Metastatic breast cancer and treatment with prior chemotherapy
• Any clinical phenotype (Triple negative, Hormone receptor positive, human epidermal growth factor receptor 2 (HER2)-positive)
• Patient must have received a metastatic tumor biopsy within 3 years prior to the date of the first planned blood sample for the study and have tissue available from this biopsy
• Able to voluntarily provide informed consent

You may not qualify if:

• Women who are pregnant or nursing

Sponsors & Collaborators

• Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins: lead
• Foundation Medicine: collaborator
• Avon Foundation: collaborator
• Biocept, Inc.: collaborator

Study Sites (2)

Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins

Baltimore, Maryland, 21287-0013, United States

Location

Allegheny Health Network Cancer Institute

Pittsburgh, Pennsylvania, 15212, United States

Location

MeSH Terms

Conditions

Breast Neoplasms

Condition Hierarchy (Ancestors)

Neoplasms by Site; Neoplasms; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases

Study Officials

• Vered Stearns, M.D.

  Johns Hopkins University

  PRINCIPAL INVESTIGATOR

• Jenna Canzoniero, MD

  SKCCC Johns Hopkins Medical Institution

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 18, 2016
• First Posted: November 17, 2016
• Study Start: January 26, 2018
• Primary Completion: June 6, 2024
• Study Completion (Estimated): June 1, 2026
• Last Updated: July 14, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (2)