RecruitingObservational

Molecular Analysis of Samples From Patients With Diffuse Intrinsic Pontine Glioma and Brainstem Glioma

NCT ID: NCT01106794Sponsor: Children's National Research InstituteLast updated: 2024-08-20

Summary

The purpose of this study is to prospectively collect specimens from pediatric patients with diffuse intrinsic pontine glioma or brainstem glioma, either during therapy or at autopsy, in order to characterize the molecular abnormalities of this tumor.

Detailed description

High grade diffuse intrinsic pontine glioma (DIPG) accounts for approximately 80% of pediatric brainstem tumors and 10% of pediatric brain tumors, and is the most lethal form of brainstem gliomas in children. There is currently no effective therapy to treat these tumors. We hypothesize that this tumor exhibits unique molecular abnormalities leading to altered RNA and protein expression. The aim of this trial is to collect specimens from pediatric patients with diffuse intrinsic pontine glioma including serum, cerebrospinal fluid, urine, brain tumor and other constitutional tissue, during therapy and/or at autopsy. Our goal is to study this tissue to characterize the genetic abnormalities that lead to tumor formation in order to identify key molecules as biomarkers which we can target to design and test new and more effective treatments.

Arms & interventions

Outcome measures

Primary

Genome-wide expression patterns of RNA in tumor samples, normal brainstem tissue and cerebrospinal fluid using Affymetrix gene expression profiling
Collected tumor and normal samples will potentially be used for RNA genome-wide expression pattern profiling.
Time frame: 5 years
Validation of results of the genome-wide analysis
The molecular analysis done on collected samples will be validated through whole genome sequencing.
Time frame: 5 years
Proteomic profiling of tumor, normal brainstem tissue and cerebrospinal fluid
To obtain full characterization of collected samples, proteomic profiling will be done on tumor and normal samples collected.
Time frame: 5 years
Protein expression patterns as assessed by immunohistochemistry and western blot compared to normal brainstem tissue
Collected tumor and normal samples will have the immunochemistry and western blot compared to assess protein expression variation.
Time frame: 5 years
Genome-wide analysis of tumor samples and normal brainstem tissue
To obtain full characterization of collected samples, whole genome sequencing will be done on tumor and normal samples collected.
Time frame: 5 years
In vitro and in vivo molecular analysis of collected samples
Collected samples will potentially be used for in vitro analysis and generation of animal models of this tumor.
Time frame: 5 years

Secondary

Assess aspects associated with specimen acquisition, including potential benefits and drawbacks
Time frame: 5 years

Eligibility criteria

Sex: AllAge: Up to 21 YearsHealthy volunteers: No

Inclusion Criteria: * Patients of any age with clinical and radiologic diagnosis of diffuse intrinsic pontine glioma * Patients with other high-grade gliomas originating in the brainstem * Patients with focal gliomas (WHO grade I/II) of the brainstem Exclusion Criteria: * Patients with any type of infiltrative low grade (WHO grade I and II) or high grade glioma (WHO grade III and IV) originating outside the brainstem * Patients harboring primary brainstem tumors with other histologic diagnoses (e.g., PNET)

Study locations (1)

Children's National Medical Center

Washington D.C., District of Columbia, 20010

Recruiting

Javad Nazarian, PhD · Principal Investigator

Roger Packer, MD · Sub Investigator

Suresh Magge, MD · Sub Investigator

Amanda L Muhs, MD · Sub Investigator

References

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