Rare Embryonal Tumors of the Central Nervous System: International Registry

NCT ID: NCT05711992

Last Updated: 2025-05-08

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-02-01

Study Completion Date

2033-02-28

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Embryonal Tumor

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

OTHER

Eligibility Criteria

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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
Minimum Eligible Age

1 Day

Maximum Eligible Age

25 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Immune Oncology Research Institute

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Julieta Hoveyan, MD

Role: PRINCIPAL_INVESTIGATOR

Immune Oncology Research Institute, Yerevan, Armenia

Ruzanna Papyan, MD

Role: PRINCIPAL_INVESTIGATOR

Immune Oncology Research Institute, Yerevan, Armenia

Gevorg Tamamyan, MD, PhD, DSc

Role: STUDY_DIRECTOR

Immune Oncology Research Institute, Yerevan, Armenia

Locations

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Hematology Center named after prof. R. Yeolyan

Yerevan, , Armenia

Site Status RECRUITING

Children's Hospital of Eastern Ontario (CHEO)

Ottawa, , Canada

Site Status RECRUITING

Semmelweis University

Budapest, , Hungary

Site Status RECRUITING

National Cancer Institute, All India Institutes of Medical Sciences

New Delhi, , India

Site Status RECRUITING

Oncology Department of Golestan hospital

Tehran, , Iran

Site Status RECRUITING

IRCCS Istituto Ospedale Pediatrico Bambino Gesù

Rome, , Italy

Site Status RECRUITING

Hospital Civil de Guadalajara "Dr. Juan I. Menchaca"

Guadalajara, , Mexico

Site Status RECRUITING

Centro Médico ABC

Mexico City, , Mexico

Site Status RECRUITING

Hospital Nacional Alberto Sabogal Sologuren - EsSalud

Bellavista, , Peru

Site Status RECRUITING

Hospital Nacional Edgardo Rebagliati Martins

Lima, , Peru

Site Status RECRUITING

China Medical University Children's Hospital

Taichung, , Taiwan

Site Status RECRUITING

Countries

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Armenia Canada Hungary India Iran Italy Mexico Peru Taiwan

Central Contacts

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Julieta Hoveyan, MD

Role: CONTACT

+374 10 28 38 00

Ruzanna Papyan, MD

Role: CONTACT

+374 10 28 38 00

Facility Contacts

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Julieta Hoveyan, MD

Role: primary

+374 10 28 38 00

Ruzanna Papyan, MD

Role: backup

+374 10 28 38 00

Consolato M Sergi, MD, PhD, MPH

Role: primary

Miklós Garami, MD, MSc, PhD

Role: primary

Edit Bruckner, MD

Role: backup

Supriya Mallick, MD

Role: primary

Akash Kumar, MD

Role: backup

Azim Mehrvar, MD

Role: primary

Angela Mastronuzzi, MD, PhD

Role: primary

Giada Del Baldo, MD

Role: backup

Regina Mallinalli Navarro Martin Del Campo, MD

Role: primary

Alejandra Jimena García Velázquez, MD

Role: primary

Omar Reyes Cruzado, MD

Role: primary

Sofia Aguilar Moreno, MD

Role: backup

Ana Maria Glória Paredes Guerra, MD

Role: primary

Su Min-Yu, MD

Role: primary

Ching-Tien Peng, MD

Role: backup

Other Identifiers

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IMMONC0005

Identifier Type: -

Identifier Source: org_study_id

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