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ORPHA:251643

Myxopapillary ependymoma

low confidenceDisorder

Publications

1,540

Trials

6

Interventional, condition-specific

Researchers

1,141

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

ependymoma, benign · myxopapillary ependymoma · myxopapillary ependymoma (morphologic abnormality)

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

    1,540 matched papers (884 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Abnormal auditory canal morphology; Ependymoma; Abnormal large intestine physiology) 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

    6 matched on ClinicalTrials.gov

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)

12

Associated phenotypes · MONDO:0016699

  • Abnormal auditory canal morphology
  • Ependymoma
  • Abnormal large intestine physiology
  • Neck pain
  • Headache

Showing 5 of 12 — 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 2026-07-29

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?

1,540

1,540 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.

1,540 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).

884 in the last 10 years · low confidence

Phrase hits: 1,540 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,141

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
    Wang C5 papers · 2026

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

    Papers in Europe PMC
  2. 02
    Indelicato DJ4 papers · 2025

    Department of Radiation Oncology, University of Florida College of Medicine, Jacksonville, Florida.

    Papers in Europe PMC
  3. 03
    Wang X4 papers · 2025

    Department of Pathology, the First Affiliated Hospital of Fujian Medical University, Fuzhou, China.

    Papers in Europe PMC
  4. 04
    Wang Y4 papers · 2026

    Department of Neurosurgery, Tongji Medical School, Tongji Hospital, Huazhong University of Science and Technology, Wuhan, China. Electronic address: 330722474@qq.com.

    Papers in Europe PMC
  5. 05
    Abdallah A3 papers · 2022

    Department of Neurosurgery, Bezmialem Vakif University, Istanbul, Turkey, abdallahanas@hotmail.com.

    Papers in Europe PMC
  6. 06
    Aldape K3 papers · 2026

    Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland.

    Papers in Europe PMC
  7. 07
    Hasegawa T3 papers · 2024

    Department of Orthopaedic Surgery, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, 431-3192 Hamamatsu-city, Shizuoka, Japan.

    Papers in Europe PMC
  8. 08
    Jia W3 papers · 2026

    Department of Neurosurgery, Beijing Tiantan Hospital, Beijing Neurosurgical Institute, Capital Medical University, Beijing, China. coffeemd@163.com.

    Papers in Europe PMC
  9. 09
    Liu Y3 papers · 2025

    Institute of Pathology, China Three Gorges University, Yichang, China.

    Papers in Europe PMC
  10. 10
    Paulino AC3 papers · 2025

    Department of Radiation Oncology, MD Anderson Cancer Center, Houston, Texas.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).

low confidence · 90.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same 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 60 · after dedupe 59 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 59 · 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).

Uncertain / not reviewed (59)

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 Myxopapillary 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.

"Myxopapillary ependymoma" OR "ependymoma, benign" OR "myxopapillary ependymoma (morphologic abnormality)"

Run this search on Europe PMC

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

"Myxopapillary ependymoma" OR "ependymoma, benign" OR "myxopapillary ependymoma (morphologic abnormality)"

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: 6 interventional · 0 observational · 0 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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1540) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T10:51:11.939Z