Rare Embryonal Tumors of the Central Nervous System: International Registry

Study Purpose

Central nervous system (CNS) tumors are the most common solid malignancies among children. Although some types of CNS tumors like medulloblastomas and low-grade gliomas are widespread and well-studied, there is a huge number of rare diseases that need further research. This international registry aims to establish a large multicenter database of pediatric and young adult patients with rare embryonal tumors of the central nervous system and describe the clinical presentations, diagnostics, treatment regimens, and outcomes. Embryonal tumors with multilayered rosettes (ETMR), FOXR2-activated CNS neuroblastoma, cribriform neuroepithelial tumor, and CNS tumor with BCOR internal tandem duplication are extremely rare embryonal tumors some of which were first described in the last edition of the World Health Organization (WHO) Classification of Tumors of the Central Nervous System. Objectives of the registry are 1) to evaluate prognostic factors, 2) to identify diagnostic and treatment gaps, 3) to investigate the characteristics and outcome of the disease with different treatment regimens, and 4) to generate data-based prospective diagnostic and treatment recommendations.

Recruitment Criteria

Accepts Healthy Volunteers Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms	No
Study Type An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes. An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes. Searching Both is inclusive of interventional and observational studies.	Observational
Eligible Ages	1 Day - 25 Years
Gender	All

More Inclusion & Exclusion Criteria

Inclusion Criteria:

- Patients diagnosed with rare embryonal tumors of CNS since 01.01.2010: - ETMR (including embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma (EBL) and medulloepithelioma (MEPL) which were previously classified as CNS-PNETs) - FOXR2-activated CNS neuroblastoma.

- cribriform neuroepithelial tumor.

- CNS tumor with BCOR internal tandem duplication.

- all patients diagnosed with neuroblastoma and ganglioneuroblastoma with no molecular genetic tests available.

- Patients ≤ 25 years of age.

- Signed informed consent form for prospective patients ≥ 18 years of age.

- Signed parental permission and child assent forms for prospective patients < 18 years of age.

Exclusion Criteria:

• CNS metastases of extracranial embryonal tumors

Trial Details

Trial ID: This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.	NCT05711992
Phase Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans. Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data. Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs. Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.
Lead Sponsor The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.	Immune Oncology Research Institute
Principal Investigator The person who is responsible for the scientific and technical direction of the entire clinical study.	Julieta Hoveyan, MDRuzanna Papyan, MDGevorg Tamamyan, MD, PhD, DSc
Principal Investigator Affiliation	Immune Oncology Research Institute, Yerevan, ArmeniaImmune Oncology Research Institute, Yerevan, ArmeniaImmune Oncology Research Institute, Yerevan, Armenia
Agency Class Category of organization(s) involved as sponsor (and collaborator) supporting the trial.	Other
Overall Status	Recruiting
Countries	Armenia, Canada, Hungary, India, Iran, Islamic Republic of, Italy, Mexico, Peru, Taiwan
Conditions The disease, disorder, syndrome, illness, or injury that is being studied.	Embryonal Tumor

Additional Details

CNS tumors are the most common solid malignancies and the leading cause of children's cancer-related mortality. Embryonal tumors account for approximately 20-25% of all primary CNS tumors in children. Although medulloblastomas are the most commonly diagnosed malignant brain tumors, other embryonal tumors are relatively rare. Several studies of rare embryonal tumors have been published, but the number of included patients is generally small. Diagnosis of different subtypes of rare embryonal tumors can be extremely challenging. Because of limited data, there are no standard treatment recommendations for patients with rare embryonal tumors. Embryonal tumors with multilayered rosettes (ETMR), FOXR2-activated CNS neuroblastoma, cribriform neuroepithelial tumor, CNS tumor with BCOR internal tandem duplication, and embryonal tumors not otherwise specified/not elsewhere classified (NOS/NEC) are extremely rare. Moreover, FOXR2-activated CNS neuroblastoma, cribriform neuroepithelial tumor, and CNS tumor with BCOR internal tandem duplication were first described in the fifth edition of the WHO Classification of Tumors of the Central Nervous System, published in 2021. Because of the rarity of these tumors, randomized controlled clinical trials are extremely complicated to conduct. Considering the lack of studies from low- and middle-income countries (LMICs) it is not excluded that cases of rare embryonal tumors are more common than have been described in the literature. Hence, evidence can be generated through registry studies. This is a multicenter international retrospective and prospective registry to collect and analyze data from pediatric and young adult patients diagnosed with rare CNS embryonal tumors. Patients will be recruited directly by participating centers and national study groups. Participating centers will collect and verify the informed consent of all prospective patients enrolled at their centers. Patients diagnosed with rare embryonal tumors of the CNS (ETMR, FOXR2-activated CNS neuroblastoma, cribriform neuroepithelial tumor, CNS tumor with BCOR internal tandem duplication, embryonal tumors NOS/NEC) since 01.01.2010 will be included. ETMR has been included in the WHO classification of CNS tumors since 2016 and encompasses three morphologically distinct embryonal tumors (Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma (EBL) and medulloepithelioma (MEPL)) that were previously classified as CNS primitive neuroectodermal tumors (CNS-PNETs). These histological subtypes should also be included in the study. Considering the lack of molecular genetic tests done among retrospective cases, the investigators will also include all patients diagnosed with neuroblastoma and ganglioneuroblastoma. The following data will be collected through questionnaires: 1. Patient characteristics. 2. Characteristics of rare CNS embryonal tumors. 3. Details of the diagnosis and treatment. 4. Complications and late effects of treatment. 5. Outcomes. 6. Follow-up information. Quality control and data management will be conducted by the Immune Oncology Research Institute.

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