Study in Patients With Breast Cancer Leptomeningeal Metastasis (BioLept)

A Translational Observational Biorepository and Management Study in Patients With Breast Cancer Leptomeningeal Metastasis: The BioLept Study

Traditional clinical trials in patients with breast cancer leptomeningeal disease (LMD) are challenging as patients often have a rapidly progressive course and prognosis is poor, making meeting standard eligibility difficult. Furthermore, there is limited information about the biology of LMD. The investigators thus propose a study that is as inclusive as possible, which will allow the investigators to collect biospecimens and clinical outcomes to learn more about LMD biology, but still potentially provide benefit for patients, by providing patients rapid diagnostics and multi-disciplinary treatment recommendations.

Study Overview

• Status: Recruiting
• Conditions: Leptomeningeal Metastasis of Breast Cancer

Detailed Description

This is a prospective translational observational study for patients with breast cancer leptomeningeal disease (LMD). LMD is notoriously difficult to treat, and prognosis is generally very poor, with most patients typically succumbing to the disease within a few months of its diagnosis. Conducting clinical trials is challenging for these reasons, and there are limited data regarding biological processes of LMD. The overarching goal of this study is to be as inclusive as possible to optimize and learn from patients with LMD. The investigators propose a prospective observational study to establish (1) a translational collection protocol to comprehensively collect tissue, blood, and CNS samples, and (2) a therapeutic management program utilizing the Johns Hopkins Molecular Tumor Board, to provide multi-disciplinary treatment recommendations in a timely manner, and (3) collect outcome data that can be correlated with biomarkers.

• Study Type: Observational
• Enrollment (Estimated): 30

Contacts and Locations

• Study Contact: Name: Sidney Kimmel Cancer Center Clinical Research Office; Phone Number: 410-955-8866; Email: jhcccro@jhmi.edu
• Study Contact Backup: Name: Hopkins Breast Trials; Phone Number: 410-614-1361; Email: HopkinsBreastTrials@jhmi.edu

Study Locations

• United States
  • District of Columbia
    • Washington D.C., District of Columbia, United States, 20016
      • Not yet recruiting
      • Sibley Memorial Hospital
      • Contact: Azka Tariq; Phone Number: 202-660-5712; Email: atariq6@jhmi.edu
      • Contact: Aliya Lalji; Phone Number: 202-243-2294; Email: alalji1@jhmi.edu
  • Maryland
    • Baltimore, Maryland, United States, 21287
      • Recruiting
      • Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
      • Contact: Hopkins Breast Trials; Phone Number: 410-614-1361; Email: HopkinsBreastTrials@jhmi.edu
      • Principal Investigator: Cesar A Santa-Maria, M.D.

Participation Criteria

Eligibility Criteria

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

• Sampling Method: Non-Probability Sample

Study Population

This is a prospective translational observational study for patients with breast cancer leptomeningeal disease (LMD).

Description

Inclusion Criteria:

• Male or female, aged 18 or older
• History of breast cancer (any subtype)
• Suspected breast cancer-related leptomeningeal metastasis (i.e., by clinical signs or symptoms (i.e., peri-oral dysesthesia, unexplained new neurological symptoms in the absence of brain metastasis), radiographic, or by cerebrospinal fluid analysis), whereby patient will be treated along an leptomeningeal disease paradigm.
• Previous central nervous system metastasis (including leptomeningeal disease or brain metastasis) is eligible.
• Eastern Cooperative Oncology Group (ECOG) score of ≤3 or Karnofsky performance status ≥60.

Exclusion Criteria:

• Suspected central nervous system recurrence of hematologic malignancy, lymphoma or other solid tumor
• Not eligible for treatment of leptomeningeal disease.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Patients with breast cancer leptomeningeal disease (LMD); Participation involves allowing access to participant medical records including the genetic information of the tumor, undergoing standard-of-care work up as indicated (this may include MRI of brain or spine, spinal tap, etc.), providing a cerebrospinal (CSF) sample (less than 2 tablespoons), blood sample (about 4 tablespoons) at baseline and possibly again after month, and answering online questionnaires monthly. Johns Hopkins Molecular Tumor Board will review clinical and genetic information and provide treatment recommendations. CSF and blood will be collected at baseline no matter what treatment is recommended. If possible, collect CSF and blood again after one month. Additional blood and CSF sampling may also be obtained if/when therapy changes. The oncologist will ultimately decide if participant will proceed with the recommend treatment or not. Health information and questionnaires are obtained to assess how participants are doing on therapy.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Percentage of patients who achieve goal time to treatment recommendation	Rapid molecular tumor board (MTB) evaluation. The investigators will measure the percentage of patients who achieve the following the goal time to treatment recommendation. The investigators goal time to treatment recommendation will be ≤7 days from enrollment, and the investigators goal time to treatment initiation ≤14 days from enrollment. There is no set goal in terms of percentage of patients achieving set timeframes as there will be a significant variability. The investigators hope to continuously refine this process to meet these ideal timeframes. The investigators will report the investigators' ability to achieve these timeframes in order to evaluate the feasibility of rapid molecular tumor board (MTB) evaluation and time to treatment in patients with breast cancer leptomeningeal disease (LMD)..	2 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Correlation of patient reported outcomes and biomarkers	The investigators will assess patient reported outcomes (PROs) using the Patient-Reported Outcomes Measurement Information System Global-10 (PROMIS Global-10) and select questions from the Functional Assessment of Cancer Therapy - Central nervous System (FACT-CNS) and Functional Assessment of Cancer Therapy-Brain (FACT-Br) questionnaire. The investigators will describe development of central nervous systems and clinical deterioration, and correlate with patient reported outcomes and biomarkers including Germline testing and Tumor Next Generation Sequencing.	2 years
Correlation of molecular features of cerebrospinal fluid and cerebrospinal fluid biomarkers	Molecular features of cerebrospinal fluid (CSF) including circulating tumor cell (CTCs) and cell-free tumor DNA (ctDNA). Cerebrospinal fluid biomarkers will be described and correlated with standard CSF assessments including cytology and cell count, radiographic assessments, and clinical outcomes, and correlate these with standard CSF and radiographic assessments, and patient outcomes.	2 years

Collaborators and Investigators

• Sponsor: Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
• Collaborators: Avon Foundation
• Investigators: Principal Investigator: Cesar Santa-Maria, MD, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins

Study record dates

Study Major Dates

• Study Start (Actual): November 25, 2024
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2028

Study Registration Dates

• First Submitted: October 9, 2024
• First Submitted That Met QC Criteria: October 9, 2024
• First Posted (Actual): October 15, 2024

Study Record Updates

• Last Update Posted (Actual): November 28, 2025
• Last Update Submitted That Met QC Criteria: November 25, 2025
• Last Verified: November 1, 2025

More Information

Terms related to this study

• Keywords: breast cancer
• Additional Relevant MeSH Terms: Neoplasms by Site; Neoplasms; Skin Diseases; Breast Diseases; Skin and Connective Tissue Diseases; Breast Neoplasms
• Other Study ID Numbers: J2323; IRB00371039 (Other Identifier: Johns Hopkins IRB)

Drug and device information, study documents

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