Clinical trial · Interventional
CSF Analysis in EGFR Mutant Non-Small Cell Lung Cancer With Leptomeningeal Disease
CSF Liquid Biopsy Based Characterization of Leptomeningeal Disease in EGFR Mutant Non-Small Cell Lung Cancer
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
Leptomeningeal disease is malignant seeding of the leptomeninges and presents with a variety of symptoms frequently impacting quality of life. With improvement in treatment options, rates of leptomeningeal disease are increasing and currently found in up to 9% of EGFR mutant NSCLC. Systemic therapy may be more effective if it can target the correct molecular aberration. The molecular characterization of central nervous system disease may differ from disease outside of the central nervous system. The aim of this pilot trial is to evaluate for molecular differences between cerebral spinal fluid (CSF) and blood circulating tumor DNA (ctDNA) through the use of ddPCR and BC Cancer NGS panel molecular testing.
Conditions
Conditions (3)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| EGFR Activating Mutation | — | UNRESOLVED | — |
| Leptomeningeal Metastasis | — | UNRESOLVED | — |
| Non Small Cell Lung Cancer | Lung Non-Small Cell Carcinoma | ALIAS | 0.90 |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Lumbar puncture and Phlebotomy | Diagnostic Test | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- type
- EXPERIMENTAL
- label
- Experimental arm
- description
- ddPCR and BC Cancer NGS panel completed on cerebral spinal fluid and blood circulating tumor DNA
- interventionNames
- Diagnostic Test: Lumbar puncture and Phlebotomy
Primary outcomes (1)
- measure
- Concordance of molecular profiling of CSF and plasma in EGFR mutation positive NSCLC patients with leptomeningeal disease
- timeFrame
- 36 months
- description
- To determine the concordance rate of molecular alterations detected in the CSF and plasma of EGFR mutation positive NSCLC patients with leptomeningeal disease
Secondary outcomes (6)
- measure
- Concordance of treatment recommendations based on ctDNA and CSF
- timeFrame
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
Inclusion Criteria: * Subject age is greater than or equal to 18 years at the time of signature of informed consent. * Histologically or cytologically confirmed metastatic EGFR mutant NSCLC. * Leptomeningeal disease based on brain MRI or CSF cytology. * ECOG 0-3. * Life expectancy of at least 8 weeks. * Adequate hematologic and end organ function for testing. * Ability to give informed consent for the study procedures defined in this protocol. Exclusion Criteria: * Inability to undergo a lumbar puncture due to thrombocytopenia, bleeding disorders, as well as inability to cooperate or consent to procedure. * Subjects who are otherwise felt by the treating clinician to be unfit to proceed with this protocol. * MRI spine demonstrating spinal leptomeningeal disease preventing a safe lumbar puncture.
References
Publications (2)
- BACKGROUNDWhite MD, Klein RH, Shaw B, Kim A, Subramanian M, Mora JL, Giobbie-Hurder A, Nagabhushan D, Jain A, Singh M, Kuter BM, Nayyar N, Bertalan MS, Stocking JH, Markson SC, Lastrapes M, Alvarez-Breckenridge C, Cahill DP, Gydush G, Rhoades J, Rotem D, Adalsteinsson VA, Mahar M, Kaplan A, Oh K, Sullivan RJ, Gerstner E, Carter SL, Brastianos PK. Detection of Leptomeningeal Disease Using Cell-Free DNA From Cerebrospinal Fluid. JAMA Netw Open. 2021 Aug 2;4(8):e2120040. doi: 10.1001/jamanetworkopen.2021.20040. PMID 34369989
- RESULTNevel KS, DiStefano N, Lin X, Skakodub A, Ogilvie SQ, Reiner AS, Pentsova E, Boire A. A retrospective, quantitative assessment of disease burden in patients with leptomeningeal metastases from non-small-cell lung cancer. Neuro Oncol. 2020 May 15;22(5):675-683. doi: 10.1093/neuonc/noz208. PMID 32352148