ORPHA:251880
Ependymoblastoma
Publications
688
Trials
16
Interventional, condition-specific
Researchers
1,214
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
688 matched papers (201 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
16 matched on ClinicalTrials.gov (1 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
688
688 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
688 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
201 in the last 10 years · low confidence
Phrase hits: 688 · MeSH hits: 0
Who's working on it?
1,214
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Pietsch T14 papers · 2022
Department of Neuropathology, DGNN Brain Tumor Reference Center, University of Bonn, DZNE German Center for Neurodegenerative Diseases, Bonn, Germany.
Papers in Europe PMC - 02Gessi M10 papers · 2022
Neuropathology Unit, Division of Pathology, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.
Papers in Europe PMC - 03
- 04Rutkowski S9 papers · 2024
Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Papers in Europe PMC - 05Korshunov A7 papers · 2025
Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany.
Papers in Europe PMC - 06Pfister SM7 papers · 2025
Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany.
Papers in Europe PMC - 07von Hoff K7 papers · 2022
Department of Pediatric Oncology and Hematology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Papers in Europe PMC - 08Warmuth-Metz M7 papers · 2022
Reference Center for Neuroradiology, University Hospital of Würzburg, Würzburg, Germany (J.N., C.S., B.A., M.W.-M.); Department of Radiology, University Hospital of Würzburg, Würzburg, Germany (J.N.); Department of Radiology, Pathology Research, Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts (C.S., T.L.F.); Department of Neuropathology, Brain Tumor Reference Center, Bonn, Germany (T.P.); Department of Pediatric Hematology and Oncology, University Medical Center Hamburg- Eppendorf, Hamburg, Germany (C.F., K.v.H., S.R.); Division of Pediatric Oncology, Hematology and Hemostaseology, Department of Women's and Children's Health, University Hospital Leipzig, Leipzig, Germany (C.F.).
Papers in Europe PMC - 09Giangaspero F6 papers · 2021
Department of Radiological, Oncological and Anatomopathological Sciences, Sapienza University of Rome, Rome, Italy.
Papers in Europe PMC - 10Friedrich C5 papers · 2022
Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Martinistr. 52, D-20246 Hamburg, Germany.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
16
interventional trials for this specific condition
16 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
16 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.7th percentile).
low confidence · 93.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
16 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06942039·RECRUITING·Pilot Study of IT Topotecan and Maintenance Chemotherapy for HR-EBTs in Children < 6 Years, Post Consolidation
Conditions: CNS Embryonal Tumor · CNS, Medulloblastoma · Atypical Teratoid Rhabdoid Tumor · Medulloblastoma, Childhood·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Ependymoblastoma"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ependymoblastoma"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 16 interventional · 0 observational · 1 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low
Ingested 2026-07-27T10:53:50.751Z