Collection of CSF Samples From Participants With Metastatic Triple Negative Breast Cancer (TNBC) and HER2+ Breast Cancer With no Prior History Nor Active Radiographically Detectable Brain Metastases

Sample Collection Study to Analyze Cerebral Spinal Fluid as a Biomarker for Brain Metastasis in Metastatic Breast Cancer

Background:

Breast cancer is the most common cancer among women. It can often spread to the liver, lungs, bones, or brain. Breast cancer that spreads to the brain is often fatal. Researchers want to know if tumor DNA found in spinal fluid, blood, or tumor tissue can help predict when the cancer will spread to the brain. They want to collect these fluid and tissue samples for research.

Objective:

To collect spinal fluid and other samples from people with breast cancer that has spread to other parts of the body.

Eligibility:

People aged 18 years and older with HER2-positive or triple negative breast cancer. The cancer must have spread to other parts of the body but not to the brain.

Design:

Participants will be screened. They will have blood tests to assess kidney function. They will have an imaging scan of the brain.

Participants will come to the NIH clinic to have their samples collected:

• Spinal fluid. A thin needle will be inserted into the lower back to draw out a sample of fluid from the space around the spinal cord. A physical exam and blood tests will be done to make sure it is safe for participants to have this procedure.
• Blood.
• Saliva or cheek swabs. They will rub a cotton swab inside of their mouth.
• Tumor samples. If participants have had samples of tumor tissue (biopsies) collected in the past, leftover tissue may be used for this study.

Participants will be contacted for follow-up every 6 months for 3 years. They may return once a year to provide further samples.

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Study Overview

• Status: Not yet recruiting
• Conditions: Breast Cancer; Breast Carcinoma; Malignant Neoplasm of Breast; Cancer of the Breast
• Intervention / Treatment: Other: Arm 1

Detailed Description

Background

• Breast cancer (BC) is the most common cancer among women and the second leading cause of cancer-related deaths in women.
• Among the four common metastatic sites of BC - liver, lung, bone, and brain - brain metastases result in the most severe adverse effects and poorest survival outcomes.
• Despite robust preclinical data on potential drugs for brain metastasis prevention, designing prevention trials remains challenging due to the difficulty of identifying high-risk populations, the long time required for outcomes to develop, and the associated costs.
• Circulating-tumor DNA (ctDNA) from cerebrospinal fluid (CSF) collected from patients who had been locally treated for brain metastases and showed no evidence of metastases on MRI displayed a distinct mutation profile compared to plasma collected at the same time.

Primary Objective

-To collect CSF samples from participants with metastatic triple negative breast cancer (TNBC) and HER2+ breast cancer (BC) with no prior history nor active radiographically detectable brain metastases

Eligibility

• Confirmed metastatic HER2+ BC or TNBC
• Age >=18 years

Design

• This pilot, single-site tissue collection trial aims to collect CSF samples for analysis as potential predictors of brain metastases.
• CSF, blood, tumor tissue, and saliva or buccal mucosa will be collected at baseline and optionally during the study.
• All participants will be followed up for brain metastasis development every 6 months for up to 3 years.

• Study Type: Observational
• Enrollment (Estimated): 139

Contacts and Locations

• Study Contact: Name: Ann C McCoy, R.N.; Phone Number: (240) 760-6021; Email: ann.mccoy@nih.gov
• Study Contact Backup: Name: Takeo Fujii, M.D.; Phone Number: (240) 858-3558; Email: takeo.fujii@nih.gov

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • National Institutes of Health Clinical Center
      • Contact: National Cancer Institute Referral Office; Phone Number: 888-624-1937; Email: ncimo_referrals@mail.nih.gov

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Participants with metastatic triple negative breast cancer (TNBC) and HER2-positive breast cancer with no prior history nor active radiographically detectable brain metastases.

Description

• INCLUSION CRITERIA:
• Pathology documentation of histologically confirmed HER2+ BC or TNBC with a history of metastatic disease.
• Participants must be able to undergo lumbar puncture (LP) and brain MRI.
• Women age >= 18 years

• Adequate organ function as defined below:

  • Creatinine <=1.5 x institutional upper limit of normal (ULN)

OR

--Calculated Creatinine clearance >=40 mL/min/1.73 m2 for individuals with creatinine levels above institutional ULN (using either Chronic Kidney Disease Epidemiology Collaboration [CKD-EPI] equation)

- Participants must be able to understand and willing to sign a written informed consent document.

EXCLUSION CRITERIA:

• Prior history or current MRI-detected brain metastasis or leptomeningeal disease
• Previous history of any invasive malignancies, except for surgically resected local cutaneous malignancies.
• Pregnancy

Study Plan

How is the study designed?

Number of groups / cohorts

4

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Cohort 1; Participants with metastatic triple negative breast cancer (mTNBC) without a history or active radiographically detectable CNS disease who underwent at least one systemic therapy	Other: Arm 1; Collection of CSF, blood, tumor tissue, and saliva or buccal mucosa
Cohort 2; Participants with metastatic HER2+ BC without a history or active radiographically detectable CNS disease who underwent at least one systemic therapy	Other: Arm 1; Collection of CSF, blood, tumor tissue, and saliva or buccal mucosa
Cohort 3; Participants with newly diagnosed mTNBC without a history or active radiographically detectable CNS disease and without prior systemic therapies	Other: Arm 1; Collection of CSF, blood, tumor tissue, and saliva or buccal mucosa
Cohort 4; Participants with newly diagnosed metastatic HER2+ BC without a history or active radiographically detectable CNS disease and without prior systemic therapies	Other: Arm 1; Collection of CSF, blood, tumor tissue, and saliva or buccal mucosa

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Collection of CSF samples	CSF samples from participants with metastatic triple negative breast cancer (TNBC) and HER2+ breast cancer (BC) with no prior history nor active radiographically detectable brain metastases will be collected to perform downstream analyses will be collected and summarized/described descriptively.	Up to 3 years

Collaborators and Investigators

• Sponsor: National Cancer Institute (NCI)
• Investigators: Principal Investigator: Takeo Fujii, M.D., National Cancer Institute (NCI)

Publications and helpful links

Helpful Links

• NIH Clinical Center Detailed Web Page

Study record dates

Study Major Dates

• Study Start (Estimated): July 1, 2026
• Primary Completion (Estimated): July 1, 2033
• Study Completion (Estimated): July 1, 2034

Study Registration Dates

• First Submitted: May 30, 2026
• First Submitted That Met QC Criteria: May 30, 2026
• First Posted (Actual): June 2, 2026

Study Record Updates

• Last Update Posted (Actual): June 2, 2026
• Last Update Submitted That Met QC Criteria: May 30, 2026
• Last Verified: May 27, 2026

More Information

Terms related to this study

• Keywords: Metastatic Breast Cancer; Triple Negative Breast Cancer (TNBC); HER2-Postitive; Cerebral Spinal Fluid Collection
• Additional Relevant MeSH Terms: Neoplasms by Site; Neoplasms; Skin Diseases; Breast Diseases; Skin and Connective Tissue Diseases; Breast Neoplasms; Triple Negative Breast Neoplasms
• Other Study ID Numbers: 10002493; 002493-C

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: This study will comply with the NIH Data Management and Sharing (DMS) Policy, which applies to all new and ongoing NIH-funded research in the IRP, as of January 25, 2023, that is associated with a ZIA, with a clinical protocol that undergoes scientific review and/or will involve genomic data sharing.
• IPD Sharing Time Frame: Data will be made available as soon as possible or at the time of associated publication. Data not published in a manuscript will be shared via public source once the data set completes QC.
• IPD Sharing Access Criteria: Clinical data will be made available upon request and with the permission of the study PI. Genomic data are made available via dbGAP through requests to the data custodians.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP; ICF

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No