ORPHA:251855
Anaplastic/large cell medulloblastoma
Publications
160
65.1th percentile
Trials
0
Interventional, condition-specific
Researchers
4,993
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A histological variant of medulloblastoma, an embryonic malignancy, associated with extremely low survival rates and a high risk of metastatic disease and manifesting with symptoms of increased intracranial pressure such as vomiting, headache, listlessness, papilledema and diplopia.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016709
- UMLS:C4330531
- NCIT:C129436
Additional Mondo synonyms (1)
large cell/anaplastic 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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
160 matched papers (92 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 trialPartial
None under the specific name; 204 for broader category medulloblastoma
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?
160
160 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
160 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).
92 in the last 10 years · high confidence · 65.1th percentile (publications denominator)
Phrase hits: 160 · MeSH hits: 0
Who's working on it?
4,993
Distinct author names in 160 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01
- 02Bouffet E37 papers · 2023
Division of Hematology/ Oncology, Hospital for Sick Children, ON, Canada
Papers in Europe PMC - 03
- 04
- 05
- 06
- 07
- 08Wolff J23 papers · 2014
Pediatrics, University of Texas MD Anderson Cancer Center, Houston, TX, USA
Papers in Europe PMC - 09Goldman S21 papers · 2020
Pediatric Neuro-Oncology, Children’s Memorial Hospital, Chicago, IL, USA
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 204 trials are registered for medulloblastoma, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
204 interventional trials matched medulloblastoma, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: medulloblastoma
204
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
- NCT07087002·RECRUITING·GPC2-CAR T Cell Therapy for Relapsed or Refractory Medulloblastoma in Children and Young Adults
Conditions: Medulloblastoma · Central Nervous System Embryonal Tumor · Refractory Medulloblastoma · Recurrent Medulloblastoma·Matched via name phrase
- NCT07715357·NOT YET RECRUITING·Evaluation of The Radioprotective Effect of 3D-Printed Intraoral Stents in Children With Brain Cancer.
Conditions: Medulloblastoma Tumor·Matched via name phrase
- NCT06161519·RECRUITING·PLX038 in Primary Central Nervous System Tumors Containing MYC or MYCN Amplifications
Conditions: Glioma · Medulloblastoma · Ependymoma · Glioblastoma·Matched via name phrase
- NCT06898684·RECRUITING·Medulloblastoma Online Video-based Exercise Pilot Study
Conditions: Medulloblastoma, Childhood·Matched via name phrase
- NCT05106296·RECRUITING·Chemo-immunotherapy Using Ibrutinib Plus Indoximod for Patients With Pediatric Brain Cancer
Conditions: Ependymoma · Medulloblastoma · Glioblastoma · Primary Brain Tumor·Matched via name phrase
- NCT01356290·RECRUITING·Antiangiogenic Therapy for Children With Recurrent Medulloblastoma, Ependymoma, ATRT and Rare CNS Tumors
Conditions: Medulloblastoma Recurrent · Ependymoma Recurrent · ATRT Recurrent · Rare CNS Tumor Recurrent·Matched via name phrase
- NCT06607692·RECRUITING·Study in Children and Adolescents of 177Lu-DOTATATE (Lutathera®) Combined With the PARP Inhibitor Olaparib for the Treatment of Recurrent or Relapsed Solid Tumours Expressing Somatostatin Receptor (SSTR) (LuPARPed).
Conditions: Solid Tumor Cancer · Medulloblastoma · High Risk Neuroblastoma · High Grade Gliomas·Matched via name phrase
- NCT07516353·NOT YET RECRUITING·my.naviGATE: A Guide to After-Treatment Effects for Adolescents and Young Adults
Conditions: Sarcoma · Osteosarcoma · Ewing Sarcoma · Rhabdomyosarcoma·Matched via name phrase
- NCT04541082·RECRUITING·Phase I Study of Oral ONC206 in Recurrent and Rare Primary Central Nervous System Neoplasms
Conditions: Central Nervous System Neoplasms · Glioblastoma · Gliosarcoma, Adult · Anaplastic Oligodendroglioma·Matched via name phrase
- NCT06396481·NOT YET RECRUITING·Clinical Study of Allogeneic Vγ9Vδ2 T Cells in the Treatment of Brain Malignant Glioma
Conditions: GBM · DIPG Brain Tumor · Medulloblastoma·Matched via name phrase
- NCT07584499·RECRUITING·Phase I Study of Becotatug Vedotin for Safety and Efficacy in EGFR-Positive Pediatric Relapsed/Refractory or Metastatic Solid Tumors
Conditions: Head and Neck Squamous Cell Carcinoma (HNSCC) - Recurrent/Metastatic (R/M) · Nasopharyngeal Carcinoma · Lymphoepithelial Carcinoma · Rhabdomyosarcoma·Matched via name phrase
- NCT05382338·RECRUITING·A Study of Treatment for Medulloblastoma Using Sodium Thiosulfate to Reduce Hearing Loss
Conditions: Childhood Medulloblastoma·Matched via name phrase
- NCT07017816·RECRUITING·A Phase 0/1 Study of cDNA for TP53, Checkpoint Inhibition and Radiation in Children With Recurrent, Progressive or Refractory CNS Malignancies.
Conditions: CNS Malignancies · Medulloblastoma Recurrent · ATRT Recurrent · Pineoblastoma·Matched via name phrase
- NCT06193759·RECRUITING·Immunotherapy for Malignant Pediatric Brain Tumors Employing Adoptive Cellular Therapy (IMPACT)
Conditions: Medulloblastoma, Childhood · Atypical Teratoid/Rhabdoid Tumor of CNS · Embryonal Tumor With Multilayered Rosettes · Pineoblastoma·Matched via name phrase
- NCT07698899·RECRUITING·A Study of 177Lu-DTPA-Omburtamab in Children and Adolescents With Brain Cancer or Cancer That Has Spread to the Central Nervous System (CNS)
Conditions: Recurrent Medulloblastoma · Refractory Medulloblastoma · CNS Metastases · Central Nervous System Metastasis·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.
"Anaplastic/large cell medulloblastoma" OR "large cell/anaplastic medulloblastoma"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Anaplastic/large cell medulloblastoma" OR "large cell/anaplastic medulloblastoma"
Study-type breakdown: 0 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T10:52:41.535Z