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 found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
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=3967) is 59.
688 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
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 11 September 2026
16 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.2th percentile).
low confidence · 94.2th 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
Not reviewed·Conditions: CNS Embryonal Tumor · CNS, Medulloblastoma · Atypical Teratoid Rhabdoid Tumor · Medulloblastoma, Childhood·Matched via name phrase
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Ependymoblastoma — check Associations / patient organisations on that page.
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