Ependymoblastoma

Summary

Ependymoblastoma (MONDO:0016715) is a disease and 13 clinical trials. Top therapeutic interventions include carboplatin, eflornithine, and etoposide phosphate. A subtype of central nervous system primitive neuroectodermal neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 13

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	ependymoblastoma
Mondo ID	MONDO:0016715
Orphanet	251880
DOID	DOID:0080903, DOID:4794
NCIT	C4915
SNOMED CT	715901002
UMLS	C0700367
MedGen	152150
GARD	0020720
MedDRA	10014966
Is cancer (heuristic)	no

Also known as: embryonal tumor with abundant neuropil and true Rosettes · embryonal tumor with abundant neuropil and true rosettes · embryonal tumor with Multilayered Rosettes · embryonal tumor with Multilayered Rosettes with C19MC amplification · embryonal tumor with Multilayered Rosettes, C19MC-altered · embryonal tumour with abundant neuropil and true Rosettes · embryonal tumour with abundant neuropil and true rosettes · embryonal tumour with Multilayered Rosettes · embryonal tumour with Multilayered Rosettes with C19MC amplification · embryonal tumour with Multilayered Rosettes, C19MC-altered · ependymoblastoma · ETANTR · ETMR · ETMR, C19MC-altered · neuroectodermal tumors primitive · neuroectodermal tumours primitive

Disease family

This is a subtype of central nervous system primitive neuroectodermal neoplasm. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › nervous system cancer › central nervous system cancer › central nervous system primitive neuroectodermal neoplasm › ependymoblastoma

Related subtypes (7): adult central nervous system primitive neuroectodermal neoplasm, childhood central nervous system primitive neuroectodermal neoplasm, intracranial primitive neuroectodermal tumor, spinal cord neuroblastoma, ganglioneuroma, spinal cord primitive neuroectodermal tumor, central nervous system tumor with bcor internal tandem duplication

Subtypes (3): pediatric infratentorial ependymoblastoma, adult embryonal tumor with multilayered rosettes, c19mc-altered, pediatric cerebral ependymoblastoma

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 13.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE1	5
PHASE1/PHASE2	3
PHASE2	2
Not specified	2
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06465199	PHASE1/PHASE2	RECRUITING	Eflornithine (DFMO) and AMXT 1501 for Neuroblastoma, CNS Tumors, and Sarcomas
NCT06861244	PHASE2	RECRUITING	Embryonal Tumor With Multilayered Rosettes
NCT00983398	PHASE1/PHASE2	UNKNOWN	Melphalan, Carboplatin, Mannitol, and Sodium Thiosulfate in Treating Patients With Recurrent or Progressive CNS Embryonal or Germ Cell Tumors
NCT02095132	PHASE1/PHASE2	COMPLETED	Adavosertib and Irinotecan Hydrochloride in Treating Younger Patients With Relapsed or Refractory Solid Tumors
NCT02684071	PHASE2	TERMINATED	Phase II Study of Intraventricular Methotrexate in Children With Recurrent or Progressive Malignant Brain Tumors
NCT06193759	PHASE1	RECRUITING	Immunotherapy for Malignant Pediatric Brain Tumors Employing Adoptive Cellular Therapy (IMPACT)
NCT07087002	PHASE1	RECRUITING	GPC2-CAR T Cell Therapy for Relapsed or Refractory Medulloblastoma in Children and Young Adults
NCT07390539	PHASE1	NOT_YET_RECRUITING	B7-H3.CD28Z.CART in CNS Neoplasms
NCT01082926	PHASE1	COMPLETED	Phase I Study of Cellular Immunotherapy for Recurrent/Refractory Malignant Glioma Using Intratumoral Infusions of GRm13Z40-2, An Allogeneic CD8+ Cytolitic T-Cell Line Genetically Modified to Express the IL 13-Zetakine and HyTK and to be Resistant to Glucocorticoids, in Combination With Interleukin-2
NCT03434262	PHASE1	COMPLETED	SJDAWN: St. Jude Children’s Research Hospital Phase 1 Study Evaluating Molecularly-Driven Doublet Therapies for Children and Young Adults With Recurrent Brain Tumors
NCT06942039	EARLY_PHASE1	RECRUITING	Pilot Study of IT Topotecan and Maintenance Chemotherapy for HR-EBTs in Children < 6 Years, Post Consolidation
NCT03581240	Not specified	AVAILABLE	An Intermediate Expanded Use Trial of DFMO
NCT04794686	Not specified	RECRUITING	ETMR One: An International Registry and Research Platform for Children With Embryonal Tumor With Multilayer Rosettes

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CARBOPLATIN	4	2
EFLORNITHINE	4	2
ETOPOSIDE PHOSPHATE	4	1
MANNITOL	4	1
SODIUM THIOSULFATE	4	1
SONIDEGIB	4	1
SORBITOL	4	1
ADAVOSERTIB	2	1
EFLORNITHINE, (S)-	2	1
CHEMBL3753202	0	1
CHEMBL4446459	0	1