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International Rare Brain Tumor Registry (IRBTR)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT05697874
Recruitment Status : Recruiting
First Posted : January 26, 2023
Last Update Posted : February 13, 2024
Information provided by (Responsible Party):
Children's National Research Institute

Brief Summary:
The objective of the International Rare Brain Tumor Registry (IRBTR) is to better understand rare brain tumors through the collection of biospecimens and matched clinical data of children, adolescents, and young adult patients diagnosed with rare brain tumors.

Condition or disease
Astroblastoma BCOR ITD Sarcoma CNS Sarcoma Unclassified Tumor, Malignant

Detailed Description:

The International Rare Brain Tumor Registry (IRBTR) is a prospective observational study that will collect tumor samples and matched clinical and radiological data to better understand the outcomes of patients with rare brain tumors in particular: CNS sarcoma, BCOR, MN-1 altered tumors, and other unclassified rare brain tumors.

Data collected include demographics, disease characteristics, treatment information, radiological imaging, and biospecimen collection if available ( tumor tissues Patients will be followed longitudinally to obtain outcome data. Data collection will continue for approximately 10 years.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 5800 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 10 Years
Official Title: International Rare Brain Tumor Registry
Actual Study Start Date : January 1, 2023
Estimated Primary Completion Date : December 2033
Estimated Study Completion Date : December 2033

CNS Sarcoma
Patients diagnosed with Central nervous system (CNS) sarcomas
Patients diagnosed with tumors characterized by alterations in the BCOR gene.
Astroblastoma/MN-1- altered
Patients diagnosed with Astroblastomas/MN-1 alterations
Unclassifiable tumors
Patients diagnosed with histologically ambiguous tumors or tumors that fail to classify with the current diagnostic methods.
Other Rare Brain tumors
Patients diagnosed with other rare brain tumors that do not meet the criteria for cohorts 1-4.

Primary Outcome Measures :
  1. Event-free Survival [ Time Frame: 10 years ]
    The primary outcome measure will be time from diagnosis to an event, defined as the occurrence of progression or recurrence of the disease, occurrence of a second malignant neoplasm, or death from any cause. Each cohort will be analyzed separately.

Secondary Outcome Measures :
  1. Molecular characterization [ Time Frame: 10 years ]
    To determine molecular characteristics of each cohort using somatic and germline SNV calling, methylation profiling, fusion calling and gene expression profiling. Molecular findings will be correlated with clinical characteristics to identify risk factors and subgroup-specific therapeutic susceptibilities.

  2. Radiological characterization [ Time Frame: 10 years ]
    To analyze conventional and advanced imaging findings (including diffusion weighted imaging) of each cohort and correlate them with clinical, histopathology and molecular data (radiogenomics).

Biospecimen Retention:   Samples With DNA
Tumor tissue, blood, urine, cerebrospinal fluid (CSF). Samples are collected only if part of a clinically indicated procedure from enrolled individuals.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   up to 45 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
The study population will include patients who have completed the informed consent process and are <= to 45 years of age at diagnosis of the following: CNS Sarcoma, BCOR-altered tumor, Astroblastoma/MNI-1 altered tumors, histologically ambiguous/unclassifiable brain tumor, rare brain tumor. Patients from anywhere in the world are eligible for enrollment.

Inclusion Criteria:

  • Patients with a known or suspected CNS Sarcoma.
  • Patients with a known or suspected BCOR-altered brain tumor
  • Patients with a known or suspected Astroblastoma/NM-1 altered brain tumor
  • Patients with known or suspected histologically ambiguous/unclassifiable brain tumor
  • Patients with a known or suspected rare brain tumor.
  • Signed informed consent by patient/ parent or guardian (assent where applicable) to participate in the study.

Exclusion Criteria:

  • The patient has an extra-CNS primary tumor.
  • The patient is older than 46 years of age at diagnosis.
  • The patient or family is not willing to participate or does not sign informed consent.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT05697874

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Contact: Adriana Fonseca, MD 202-476-8399
Contact: Lane Williamson, BA 202-476-5111

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United States, District of Columbia
Children's National Hospital Recruiting
Washington, District of Columbia, United States, 20010
Contact: Adriana Fonseca, MD    202-476-3899   
Contact: Lane Williamson    202-476-5111   
Principal Investigator: Adriana Fonseca, MD         
Principal Investigator: Roger J. Packer, MD         
Sponsors and Collaborators
Children's National Research Institute
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Principal Investigator: Adriana Fonseca, MD
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Responsible Party: Children's National Research Institute Identifier: NCT05697874    
Other Study ID Numbers: STUDY00000324
First Posted: January 26, 2023    Key Record Dates
Last Update Posted: February 13, 2024
Last Verified: February 2024
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: IPD will not be shared with other researchers.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Children's National Research Institute:
Rare Brain Tumor
Pediatric Brain Tumor Registry
Unclassifiable tumor
Pediatric Neuro-Oncology
Rare Disease
Additional relevant MeSH terms:
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Brain Neoplasms
Neoplasms, Neuroepithelial
Neoplasms, Connective and Soft Tissue
Neoplasms by Histologic Type
Central Nervous System Neoplasms
Nervous System Neoplasms
Neoplasms by Site
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neuroectodermal Tumors
Neoplasms, Germ Cell and Embryonal
Neoplasms, Glandular and Epithelial
Neoplasms, Nerve Tissue