Testing cerebrospinal fluid for tumor DNA in young patients with brain tumors

CSF Cell-free Tumor DNA (CSF CfDNA) Liquid Biopsies for Pediatric, Adolescent, and Young Adult Patients with Primary Brain Tumors

This study is trying to see if testing for tumor DNA in the spinal fluid can help doctors better understand and monitor brain tumors in children and young adults without needing surgery.

Quick facts

• Study type: Observational
• Enrollment: 300 (estimated)
• Ages: N/A to 40 Years
• Sex: All
• Sponsor: Pediatric Brain Tumor Consortium (network)
• Locations: 8 sites (Los Angeles, California and 7 other locations)
• Trial ID: NCT05934630 on ClinicalTrials.gov

What this trial studies

This observational study aims to analyze cell-free tumor DNA (cfDNA) found in cerebrospinal fluid (CSF) from children, adolescents, and young adults diagnosed with primary brain tumors. By utilizing a non-invasive liquid biopsy approach, the study seeks to monitor tumor characteristics and treatment responses without the need for surgical biopsies. Up to 300 participants will be enrolled, and the study will focus on understanding the molecular changes in brain tumors over time, which could lead to improved diagnostic and monitoring techniques. The research is being conducted across multiple centers, including prominent children's hospitals.

Who should consider this trial

Good fit: Ideal candidates include children and young adults up to 21 years old, or those under 40 with specific types of brain tumors more common in children.

Not a fit: Patients with brain tumors that do not fall under the specified categories or those over 40 years of age may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could provide a safer, non-invasive method for diagnosing and monitoring brain tumors in pediatric patients.

How similar studies have performed: Other studies have shown success with similar liquid biopsy approaches in different cancer types, indicating potential for this method in pediatric brain tumors.

Eligibility criteria

Inclusion Criteria:

All patients must have a known or suspected diagnosis (based on pathology or imaging) of a primary brain tumor. All children and adolescent/young adult (AYA) patients =\< 21 years of age are eligible.

AYA patients \< 40 are eligible with a primary brain tumor entity more common in children than adults. This includes:

* medulloblastoma
* non-medulloblastoma embryonal brain tumors
* atypical teratoid rhabdoid tumors (ATRT)
* ependymoma
* CNS germ cell tumors
* Diffuse midline glioma, H3K27M-altered
* Diffuse hemispheric glioma, H3 G34-mutant
* pineoblastoma
* diffuse leptomeningeal glioneuronal tumor
* diffuse brainstem glioma
* pilocytic astrocytoma
* choroid plexus carcinoma

ELIGIBLE PATIENTS WILL BE STRATIFIED BY DIAGNOSIS AS FOLLOWS:

* Stratum 1: Medulloblastoma
* Stratum 2: High-grade glioma (IDH-wildtype) and DIPG

  o DIPG patients must meet clinical and imaging requirements for DIPG diagnosis. Patients with newly diagnosed diffuse intrinsic pontine gliomas (DIPGs), defined as tumors with a pontine epicenter and diffuse involvement of 2/5 or more of the pons, are eligible without histologic confirmation. Patients with brainstem tumors that do not meet these criteria or not considered to be typical intrinsic pontine gliomas will only be eligible for Stratum B if the tumors have been biopsied and are proven to be an anaplastic astrocytoma, glioblastoma multiforme, gliosarcoma, anaplastic mixed glioma or fibrillary astrocytoma.
* Stratum 3: Low-grade glioma (IDH-wildtype) with multifocal/disseminated and/or leptomeningeal disease
* Stratum 4: Diffuse Leptomeningeal Glioneuronal Tumor
* Stratum 5: Pineoblastoma
* Stratum 6: All other eligible tumor types
* DISEASE STATUS: Participants will be eligible at any stage of disease.
* AGE: All children and adolescent/young adult (AYA) patients =\< 21 years of age are eligible. AYA patients \< 40 are eligible with a primary brain tumor entity more common in children than adults
* CEREBROSPINAL FLUID (CSF) COLLECTION: Patients must have a clinical indication for at least one CSF (lumbar, cisternal or ventricular) collection, or clinical circumstance where CSF sampling is feasible with no or minimal risk (e.g., endoscopic third ventriculostomy, external ventricular drain).
* INFORMED CONSENT: The patient or parent/guardian can understand the consent and is willing to sign a written informed consent document according to institutional guidelines.

Exclusion Criteria:

* DIAGNOSIS: Given the extremely low rate of CSF cfDNA positivity in patients with localized, non-disseminated low-grade glioma, those patients will be excluded from participation.

Where this trial is running

Los Angeles, California and 7 other locations

• Children's Hospital of Los Angeles — Los Angeles, California, United States (RECRUITING)
• Lucille Packard Children's Hospital Stanford University — Palo Alto, California, United States (RECRUITING)
• Children's National Medical Center — Washington, District of Columbia, United States (RECRUITING)
• Ann & Robert H. Lurie Children's Hospital of Chicago — Chicago, Illinois, United States (RECRUITING)
• Memorial Sloan Kettering Cancer Center — New York, New York, United States (RECRUITING)
• Cincinnati Childrens Hospital Medical Center — Cincinnati, Ohio, United States (RECRUITING)
• Nationwide Childrens Hospital — Columbus, Ohio, United States (RECRUITING)
• Children's Hospital of Pittsburgh of UPMC — Pittsburgh, Pennsylvania, United States (RECRUITING)

Study contacts

• Study coordinator: Kaylene M Herrera, BS

Conditions: Anaplastic Astrocytoma, Diffuse Brainstem Glioma, Glioblastoma Multiforme, High-grade Astrocytoma NOS, Fibrillary Astrocytoma, Low-Grade Astrocytoma, Nos, Pilocytic Astrocytoma, Choroid Plexus Carcinoma