Rare Embryonal Tumors of the Central Nervous System: International Registry

May 7, 2025 updated by: Immune Oncology Research Institute
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.

Study Overview

Status

Recruiting

Conditions

Detailed Description

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.

Study Type

Observational

Enrollment (Estimated)

300

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Armenia
      • Yerevan, Armenia, 0014
  • Canada
      • Ottawa, Canada, K1H 8L1
        • Recruiting
        • Children's Hospital of Eastern Ontario (CHEO)
        • Contact:
  • Hungary
  • India
      • New Delhi, India, 110029
        • Recruiting
        • National Cancer Institute, All India Institutes of Medical Sciences
        • Contact:
        • Contact:
          • Akash Kumar, MD
  • Iran, Islamic Republic of
      • Tehran, Iran, Islamic Republic of, 16686 19551
        • Recruiting
        • Oncology Department of Golestan hospital
        • Contact:
        • Principal Investigator:
          • Azim Mehrvar, MD
        • Sub-Investigator:
          • Maryam Tashvighi, MD
        • Sub-Investigator:
          • Narjes Mehrvar, PhD
  • Italy
  • Mexico
      • Guadalajara, Mexico, 44340
        • Recruiting
        • Hospital Civil de Guadalajara "Dr. Juan I. Menchaca"
        • Contact:
      • Mexico City, Mexico, 01120
  • Peru
      • Bellavista, Peru, 07011
        • Recruiting
        • Hospital Nacional Alberto Sabogal Sologuren - EsSalud
        • Contact:
        • Contact:
          • Sofia Aguilar Moreno, MD
      • Lima, Peru, 15072
        • Recruiting
        • Hospital Nacional Edgardo Rebagliati Martins
        • Contact:
  • Taiwan

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 day to 25 years (Child, Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

All patients diagnosed with rare embryonal tumors

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
3-year overall survival
Time Frame: 3 years
3 years
5-year overall survival
Time Frame: 5 years
5 years

Secondary Outcome Measures

Outcome Measure
Time Frame
Complete remission rate
Time Frame: 5 years
5 years
3-year event-free survival
Time Frame: 3 years
3 years
5-year event-free survival
Time Frame: 5 years
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Immune Oncology Research Institute

Investigators

  • Study Director: Gevorg Tamamyan, MD, PhD, DSc, Immune Oncology Research Institute, Yerevan, Armenia
  • Principal Investigator: Julieta Hoveyan, MD, Immune Oncology Research Institute, Yerevan, Armenia
  • Principal Investigator: Ruzanna Papyan, MD, Immune Oncology Research Institute, Yerevan, Armenia

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 1, 2023

Primary Completion (Estimated)

February 1, 2033

Study Completion (Estimated)

February 1, 2033

Study Registration Dates

First Submitted

January 25, 2023

First Submitted That Met QC Criteria

January 25, 2023

First Posted (Actual)

February 3, 2023

Study Record Updates

Last Update Posted (Actual)

May 8, 2025

Last Update Submitted That Met QC Criteria

May 7, 2025

Last Verified

May 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • IMMONC0005

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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