Personalized Molecular Profiling in Cancer Treatment at Johns Hopkins

Study Overview
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Brief Summary
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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.

Detailed Description
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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. As tumor samples can be difficult to collect, we hope to be able to collect similar genetic information from blood or urine samples that we find in tumor tissue. Ultimately, we hope to identify genes important to cancer cells that could potentially identify standard-of-care or research-based recommendations for therapy.

Official Title
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Individualized Molecular Analyses Guide Efforts in Breast Cancer - Personalized Molecular Profiling in Cancer Treatment at Johns Hopkins

Conditions
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Metastatic Breast Cancer

Intervention / Treatment
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* Other: Treatment recommendation


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Male or Female 18 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 Exclusion Criteria: Women who are pregnant or nursing

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 100 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Genetic profiling<br>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<br>* 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.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | Change in number-of-folds decrease in allelic frequency of a given mutation in ptDNA 1 or 2 weeks after beginning new systemic therapy. | 2 weeks | 
| Response as assessed by Change in Circulating tumor cell (CTC) counts | Measure CTC counts at baseline, after 1-2 weeks of therapy, and at each restaging, up to 1 year. | Change from baseline up to 1 year | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Metastatic Breast Cancer, Breast Cancer, Molecular profiling, Personalized medicine