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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.
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, PLAG/L1, and other rare or 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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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| CNS Sarcoma | Patients diagnosed with Central nervous system (CNS) sarcomas | ||
| BCOR-altered | 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. |
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| Measure | Description | Time Frame |
|---|---|---|
| Event-free Survival | 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. | 10 years |
| Measure | Description | Time Frame |
|---|---|---|
| Molecular characterization | 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. | 10 years |
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Inclusion Criteria:
Exclusion Criteria:
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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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Adriana Fonseca, MD | Contact | 202-476-8399 | afonsecash@childrensnational.org | |
| Hope Lovell | Contact | 202-476-3898 | hlovell@childrensnational.org |
| Name | Affiliation | Role |
|---|---|---|
| Adriana Fonseca, MD | afonsecash@childrensnational.org | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's Hospital Los Angeles | Recruiting | Los Angeles | California | 90027 | United States |
IPD will not be shared with other researchers.
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| ID | Term |
|---|---|
| D018302 | Neoplasms, Neuroepithelial |
| D009369 | Neoplasms |
| D035583 | Rare Diseases |
| ID | Term |
|---|---|
| D017599 | Neuroectodermal Tumors |
| D009373 | Neoplasms, Germ Cell and Embryonal |
| D009370 | Neoplasms by Histologic Type |
| D009375 | Neoplasms, Glandular and Epithelial |
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Tumor tissue, blood, urine, cerebrospinal fluid (CSF). Samples are collected only if part of a clinically indicated procedure from enrolled individuals.
| Radiological characterization | To analyze conventional and advanced imaging findings (including diffusion weighted imaging) of each cohort and correlate them with clinical, histopathology and molecular data (radiogenomics). | 10 years |
| University of California San Francisco | Recruiting | San Francisco | California | 94158 | United States |
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| Children's National Hospital | Recruiting | Washington D.C. | District of Columbia | 20010 | United States |
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| Ann & Robert H. Lurie Children's Hospital of Chicago | Recruiting | Chicago | Illinois | 60611 | United States |
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| Akron Children's Hospital | Recruiting | Akron | Ohio | 44308 | United States |
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| Cincinnati Children's Hospital Medical Center | Recruiting | Cincinnati | Ohio | 45229-3026 | United States |
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| Rambam Health Care Campus | Recruiting | Haifa | 3525409 | Israel |
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| Schneider Children's Medical Center- CLALIT Health Services | Recruiting | Petah Tikva | 4920235 | Israel |
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| Dana-Dwek Children's Hospital- Tel Aviv Medical Center | Recruiting | Tel Aviv | 6423906 | Israel |
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| The Sheba Medical Center | Recruiting | Tel Litwinsky | 52621 | Israel |
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| D009380 | Neoplasms, Nerve Tissue |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |