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ORPHA:251858

Medulloblastoma with extensive nodularity

medium confidenceSubtype of disorder

Also known as: MBEN

Publications

568

79.7th percentile

Trials

1

Interventional, condition-specific

Researchers

1,156

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

cerebellar neuroblastoma · medulloblastoma with extensive nodularity · medulloblastoma with extensive nodularity and advanced neuronal differentiation · nodular medulloblastoma

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    568 matched papers (365 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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

    1 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)

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?

568

568 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.

568 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).

365 in the last 10 years · medium confidence · 79.7th percentile (publications denominator)

Phrase hits: 568 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,156

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
    Rutkowski S12 papers · 2025

    Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

    Papers in Europe PMC
  2. 02
    Pietsch T11 papers · 2023

    Institute of Neuropathology, Brain Tumor Reference Center of the German Society for Neuropathology and Neuroanatomy, University of Bonn, German Center for Neurodegenerative Diseases, Bonn, Germany.

    Papers in Europe PMC
  3. 03
    Mynarek M10 papers · 2025

    Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

    Papers in Europe PMC
  4. 04
    Korshunov A9 papers · 2024

    Clinical Cooperation Unit Neuropathology, German Cancer Research Center; and Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany.

    Papers in Europe PMC
  5. 05
    Clifford SC8 papers · 2025

    Newcastle University Centre for Cancer, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE1 7RU, UK.

    Papers in Europe PMC
  6. 06
    Gajjar A8 papers · 2025

    Department of Oncology, St Jude Children's Research Hospital, Memphis, TN.

    Papers in Europe PMC
  7. 07
    Pfister SM8 papers · 2024

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

    Papers in Europe PMC
  8. 08
    Lafay-Cousin L7 papers · 2025

    Division of Pediatric Hematology Oncology and Bone Marrow Transplantation, Alberta Children's Hospital, Calgary, Alberta, Canada.

    Papers in Europe PMC
  9. 09
    Okonechnikov K7 papers · 2025

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

    Papers in Europe PMC
  10. 10
    Pajtler KW7 papers · 2025

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

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 203 trials are registered for medulloblastoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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.

Broader category: medulloblastoma

203

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 Medulloblastoma with extensive nodularity — 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.

"Medulloblastoma with extensive nodularity" OR "cerebellar neuroblastoma" OR "medulloblastoma with extensive nodularity and advanced neuronal differentiation" OR "nodular medulloblastoma"

Run this search on Europe PMC

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

"Medulloblastoma with extensive nodularity" OR "cerebellar neuroblastoma" OR "medulloblastoma with extensive nodularity and advanced neuronal differentiation" OR "nodular medulloblastoma"

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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"medulloblastoma"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MBEN

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T10:52:52.944Z