Testing Cerebrospinal Fluid for Cell-free Tumor DNA in Children, Adolescents, and Young Adults Wi… (NCT05934630) | Clinical Trial Compass
TerminatedNot Applicable
Testing Cerebrospinal Fluid for Cell-free Tumor DNA in Children, Adolescents, and Young Adults With Brain Tumors
Stopped: The NCI will not extend the PBTC grant beyond March 31, 2026.
United States, Canada57 participantsStarted 2023-07-12
Plain-language summary
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.
Who can participate
Age range
40 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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: Lo…
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1This trial was terminated before completing — do you know why it was stopped, and does that affect whether the cerebrospinal fluid testing approach it was studying is still considered safe or useful for my child's specific tumor type?
2Since this study was looking at whether mutations found in a spinal fluid sample match those found in the actual tumor tissue, is that kind of CSF liquid biopsy testing available to us through any other active study or standard-of-care option right now?
3My child has been diagnosed with a brain tumor that was listed in this trial — given that this study is no longer enrolling, are there other open trials specifically focused on tumor profiling or biomarker testing in cerebrospinal fluid that you would recommend we look into?
4Because this was listed as Phase NA — meaning it was primarily a scientific measurement study rather than a treatment trial — what practical benefit, if any, could the CSF tumor DNA data have provided for guiding my child's actual treatment decisions?
5If the goal of this trial was to see how well spinal fluid testing reflects what's in the tumor itself, is there currently enough evidence from other research for you to use CSF-based tumor DNA results to help guide treatment choices for my child's diagnosis?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Concordance of mutations across the tumor tissue vs. CSF