An observational study in Anaplastic Astrocytoma, Diffuse Brainstem Glioma and Glioblastoma Multiforme, sponsored by Pediatric Brain Tumor Consortium. Terminated at 10 sites in 2 countries. Open to participants aged Up to 40 Years. Per ClinicalTrials.gov, last updated 2026-04-23.
Sponsored by Pediatric Brain Tumor Consortium · Observational
Recent advances in technology have allowed for the detection of cell-free DNA (cfDNA). cfDNA is tumor DNA that can be found in the fluid that surrounds the brain and spinal cord (called cerebrospinal fluid or CSF) and in the blood of patients with brain tumors. The detection of cfDNA in blood and CSF is known as a "liquid biopsy" and is non-invasive, meaning it does not require a surgery or biopsy of tumor tissue. Multiple studies in other cancer types have shown that cfDNA can be used for diagnosis, to monitor disease response to treatment, and to understand the genetic changes that occur in brain tumors over time. Study doctors hope that by studying these tests in pediatric brain tumor patients, they will be able to use liquid biopsy in place of tests that have more risks for patients, like surgery.
There is no treatment provided on this study. Patients who have CSF samples taken as part of regular care will be asked to provide extra samples for this study. The study doctor will collect a minimum of one extra tube of CSF (about 1 teaspoon or 5 mL) for this study. If the patients doctor thinks it is safe, up to 2 tubes of CSF (about 4 teaspoons or up to 20 mL) may be collected. CSF will be collected through the indwelling catheter device or through a needle inserted into the lower part of the patient's spine (known as a spinal tap or lumbar puncture).
A required blood sample (about ½ a teaspoon or 2 3 mL) will be collected once at the start of the study. This sample will be used to help determine changes found in the CSF. Blood will be collected from the patient's central line or arm as a part of regular care.
An optional tumor tissue if obtained within 8 weeks of CSF collection will be collected if available. Similarities between changes in the DNA of the tissue that has caused the tumor to form and grow with the cfDNA from CSF will be compared. This will help understand if CSF can be used instead of tumor tissue for diagnosis. Up to 300 people will take part in this study.
This study will use genetic tests that may identify changes in the genes in the CSF. The report of the somatic mutations (the mutations that are found in the tumor only) will become part of the medical record. The results of the cfDNA sequencing will be shared with the patient. The study doctor will discuss what the results mean for the patient and patient's diagnosis and treatment. Looking for inheritable mutations in normal cells (blood) is not the purpose of this study. Genetic tests of normal blood can reveal information about the patient and also about the their relatives. The doctor will discuss what the tests results may mean for the patient and the their family. Patient may be monitored on this study for up to 5 years.
This is a multicenter study for children and young adults with 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. Up to 300 people will take part in this study.
Pediatric central nervous system (CNS) tumors represent a wide range of disorders and continue to be the leading cause of cancer-related death in children and adolescents. The past few years have led to a dramatic shift in the diagnosis and pathological classification of pediatric CNS tumors. Molecular biomarkers which are now being incorporated into treatment decisions and clinical trial design. With this, the need for longitudinal molecular monitoring of disease becomes increasingly evident. The anatomical challenges in accessing pediatric CNS malignancies coupled with the move toward molecular sub-classification and molecular targeted therapies leads to an urgent need to develop a non-invasive way to repeatedly sample these tumors. This would enable: 1) diagnose tumors that are surgically inaccessible; 2) monitor molecular changes in tumor longitudinally, including at progression and/or recurrence; and 3) develop non-invasive ways to monitor treatment responses. Recent advances in technology have allowed for the detection of cell-free tumor DNA (cfDNA), i.e., small fragments of tumor DNA, shed into the cerebrospinal fluid (CSF) and bloodstream in brain tumor patients through a process known as "liquid biopsy".
Based on the successful preliminary studies in adult glioma patients, this Pediatric Brain Tumor Consortium (PBTC)-sponsored effort will attempt to integrate CSF cfDNA liquid biopsies into the clinical care of pediatric brain tumor patients across the PBTC to enhance tumor diagnosis/molecular subclassification and guide therapeutic decision making. This will be accomplished through centralized collection and processing of CSF cfDNA samples from patients with various types of pediatric CNS tumors across PBTC member sites. The primary objective will be to investigate the concordance between CSF cfDNA alterations and tumor DNA alterations in matched pairs to understand: 1) the concordance across matched samples; and 2) the genomic evolution that occurs over time across various tumor types. Additionally, the secondary objectives and exploratory objectives in this study are intended to aggregate data across various types of pediatric primary brain tumors to understand the rate of success of CSF cfDNA molecular profiling in different disease types and at various stages of disease, and to elucidate the role of CSF cfDNA profiling in guiding clinical decision making.
The primary objective of this study is to estimate the concordance of mutations detected in the tumor tissue vs. cerebrospinal fluid cell free DNA (CSF cfDNA) across samples collected within 8 weeks of each other; determine whether clonal mutations are likely to be shared across sample types.
Patients who have CSF samples taken as part of regular care will be asked to provide extra samples for this study. The study doctor will collect a minimum of one extra tube of CSF (about 1 teaspoon or 5 mL) for this study. If the patient's doctor thinks it is safe, up to 2 tubes of CSF (about 4 teaspoons or up to 20 mL) may be collected. A required blood sample (about ½ a teaspoon or 2 - 3 mL) will be collected once at the start of the study. An optional tumor tissue if obtained within 8 weeks of CSF collection will be collected if available. There is no treatment provided on this study.
2,132 studies on the registry are indexed under Glioblastoma; 464 are open to participants now.
This study's enrollment of 57 is close to the median of 60 across 208 observational studies indexed under Glioblastoma.
Browse Glioblastoma studies →Pediatric Brain Tumor Consortium is the lead sponsor of 31 studies on the registry; none are open to participants now.
Of its 5 completed or terminated interventional studies of FDA-regulated products, 5 (100%) have results posted.
Compared within Glioblastoma, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Astrocytoma. The counts are of registry records indexed under each term, refreshed daily. How we classify →
Patients will enroll from and be seen at Pediatric Brain Tumor Consortium sites and will meet the eligibility criteria in order to participate.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
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:
ELIGIBLE PATIENTS WILL BE STRATIFIED BY DIAGNOSIS AS FOLLOWS:
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.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Cancer that has spread to the leptomeninges, the thin layers covering the brain and spinal cord, and the fluid between them. It is not the same as brain metastases.
Criteria often treat it separately, and many studies leave it out even where treated brain metastases are allowed.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Leptomeningeal disease
Cancer that has spread to the leptomeninges, the thin layers covering the brain and spinal cord, and the fluid between them. It is not the same as brain metastases.
Criteria often treat it separately, and many studies leave it out even where treated brain metastases are allowed.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Participants in Arm 1 must have diagnosis of Medulloblastoma. 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.
Participants in Arm 2 must have diagnosis of High-grade Glioma (IDH-wildtype) or Diffuse Intrinsic Pontine Glioma (DIPG). 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. DIPG patients must meet clinical and imaging requirements for DIPG diagnosis. Patients with newly diagnosed 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 2 if the tumors have been biopsied and are proven to be an anaplastic astrocytoma, glioblastoma multiforme, gliosarcoma, anaplastic mixed glioma or fibrillary astrocytoma.
Participants in Arm 3 must have diagnosis of Low-grade Glioma (IDH-wildtype) with multifocal/disseminated and/or leptomeningeal disease. 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.
Participants in Arm 4 must have diagnosis of Diffuse Leptomeningeal Glioneuronal 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.
Participants in Arm 5 must have diagnosis of Pineoblastoma. 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.
Participants in Arm 6 must have diagnosis of all other eligible primary brain tumor types. 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.
Concordance of mutations across the tumor tissue vs. CSF
Within specific histologies with paired samples, estimate the concordance of mutation detected in the tumor tissue vs. cerebrospinal fluid cell free DNA (CSF cfDNA) across samples collected within 8 weeks of each other.
Time frame: 3 months
Estimate the frequency of detection of CSF cfDNA across different types of pediatric CNS tumors in association with various disease states.
Intra-patient matched samples of CSF and tissue will be summarized for each oncogenic alteration and scored as positive vs. negative.
Time frame: 3 months
Track and estimate the correlation between the levels of CSF cfDNA and disease response as determined by clinical and imaging criteria across different disease types.
Associations between the quantity of cfDNA and standard clinical and imaging disease response will be assessed by either Wilcoxon rank-sum or Spearman's correlations.
Time frame: 3 months
Plan to share: Yes — The Pediatric Brain Tumor Consortium (PBTC) ensures that high dimensional molecular data generated from PBTC samples will be submitted to the NIH Database of Genotypes and Phenotypes (dbGaP) or other NIH-designated data repository. PBTC is required to make data available to other investigators for use in research projects. An investigator requesting data from published PBTC studies will submit a proposal describing the studies from which data are requested, the requested data, and a list of investigators in the project and their affiliated institutions, along with the investigator's CV to the PBTC Steering Committee for review. Once approved, the requesting investigator will be asked to complete a Data Transfer Agreement before the release of deidentified data. Requests for data are typically only considered once the primary study manuscript has been published though exceptions may be made in the event of long delays in the primary study data publication.
Supporting information: Study protocol, Informed consent form, Clinical study report
Time frame: 6 months after publication and end timeframe may be up to 10 years.
No publications or documents are linked to this record.
Ran from Jul 2023 to primary completion in Apr 2026, 33 months.
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This study is terminated, as verified in Apr 2026. You cannot join it, but the record below documents what was studied.
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Pediatric Brain Tumor Consortium