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ORPHA:251636

Ependymoma

medium confidenceDisorder

Also known as: Classic ependymoma

Publications

20,137

97.2th percentile

Trials

149

Interventional, condition-specific

Researchers

1,486

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Ependymoma is the most frequent intramedullary tumor in adults (but accounts for only 10-12% of pediatric central nervous system tumors), and can be benign or anaplastic. Ependymoma arise from the ependymal cells of the cerebral ventricles, corticle rests and central canal of the spinal cord, and manifest with variable symptoms such headache, vomiting, , focal neurological signs and loss of vision and can cause obstructive hydrocephalus in some cases.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

benign ependymoma · ependymoma

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    20,137 matched papers (10,921 in last 10 years) Source

  3. Phenotype characterisedPresent

    31 HPO annotations (e.g. Adult onset; Vomiting; Ependymoma) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    149 matched on ClinicalTrials.gov (25 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)

31

Associated phenotypes · MONDO:0016698

  • Adult onset
  • Vomiting
  • Ependymoma
  • Distal muscle weakness
  • Pain

Showing 5 of 31 — open Monarch for the full list.

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 2026-07-27

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

72

Drugs / clinical candidates · MONDO_0016698

CTD chemicals (MyDisease.info)

5 associated chemicals · 72 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Carmustine · therapeutic
  • Methotrexate · therapeutic
  • Procarbazine · therapeutic
  • Thalidomide · therapeutic
  • Vincristine · therapeutic

Pathways: Axon guidance; Synaptic vesicle cycle; Insulin secretion; Neurotransmitter Release Cycle; Transmission across Chemical Synapses; Neuronal System; IRS-mediated signalling; SOS-mediated signalling

MyDisease.info · MONDO:0016698

Literature

Is anyone studying this?

20,137

20,137 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

20,137 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).

10,921 in the last 10 years · medium confidence · 97.2th percentile (publications denominator)

Phrase hits: 20,137 · MeSH hits: 402

Open Europe PMC search

Who's working on it?

1,486

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.

  1. 01
    Ichimura K6 papers · 2026

    Department of Pathology, Faculty of Medicine, Kyorin University, Tokyo, Japan.

    Papers in Europe PMC
  2. 02
    Liu Y6 papers · 2026

    Department of Radiology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China.

    Papers in Europe PMC
  3. 03
    Wang Y6 papers · 2026

    Department of Radiology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang Uygur Autonomous Region, China. doctorwang1005@163.com.

    Papers in Europe PMC
  4. 04
    Hirato J5 papers · 2026

    Department of Pathology, Public Tomioka General Hospital, Tomioka, Japan.

    Papers in Europe PMC
  5. 05
    Merchant TE5 papers · 2026

    Chair, Department of Radiation Oncology, St. Jude Children's Research Hospital, Memphis, TN, United States. Electronic address: thomas.merchant@stjude.org.

    Papers in Europe PMC
  6. 06
    Tabori U5 papers · 2026

    Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada.

    Papers in Europe PMC
  7. 07
    Wang C5 papers · 2026

    Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Department of Neurosurgery, Beijing Neurosurgical Institute, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  8. 08
    Ellison DW4 papers · 2026

    Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee.

    Papers in Europe PMC
  9. 09
    Mack SC4 papers · 2026

    Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, Tennessee.

    Papers in Europe PMC
  10. 10
    Pfister SM4 papers · 2026

    Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

149

interventional trials for this specific condition

149 interventional trials matched this specific condition name; 25 currently recruiting in our sample.

Data as of 9 September 2026

149 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99th percentile).

medium confidence · 99th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

149 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

20 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 5 · after dedupe 5 · already on CT.gov 0 · kept 2 · parent 0 · uncertain 3 · dropped 0 · fetched 2026-07-27

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

Uncertain / not reviewed (3)

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 Ependymoma — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

"Ependymoma" OR "Classic ependymoma" OR "benign ependymoma"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Ependymoma

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Ependymoma" OR "Classic ependymoma" OR "benign ependymoma"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 149 interventional · 20 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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

Ingested 2026-07-26T02:04:26.390Z