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ORPHA:54595

Craniopharyngioma

medium confidenceDisorder

Publications

13,900

95.9th percentile

Trials

44

Interventional, condition-specific

Researchers

1,219

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare neoplastic/endocrine disease characterized by benign slow growing tumors of low-grade histological malignancy (WHO grade 1) that are located within the sellar and parasellar regions of the skull base.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (12)

Rathke pouch neoplasm · Rathke pouch tumor · Rathke pouch tumour · Rathke's pouch neoplasm · Rathke's pouch tumor · Rathke's pouch tumour · craniopharyngioma (WHO grade I) · craniopharyngioma (morphologic abnormality) · craniopharyngioma, benign · neoplasm of Rathke's pouch · tumor of Rathke's pouch · tumour of Rathke's pouch

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.”

4/6 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

    13,900 matched papers (6,782 in last 10 years) Source

  3. Phenotype characterisedPresent

    46 HPO annotations (e.g. Enlarged pituitary gland; Central diabetes insipidus; Progressive visual field defects) Source

  4. Animal modelNot found

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

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. beloranib Source

  6. Interventional trialPresent

    44 matched on ClinicalTrials.gov (9 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)

46

Associated phenotypes · MONDO:0018907

  • Enlarged pituitary gland
  • Central diabetes insipidus
  • Progressive visual field defects
  • Optic atrophy
  • Increased intracranial pressure

Showing 5 of 46 — 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)

1

Designation · no FDA orphan-indication approval yet

  • EMA beloranibTreatment of craniopharyngioma · 08/10/2009 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

7

Drugs / clinical candidates · MONDO_0018907

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

13,900

13,900 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.

13,900 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).

6,782 in the last 10 years · medium confidence · 95.9th percentile (publications denominator)

Phrase hits: 13,900 · MeSH hits: 283

Open Europe PMC search

Who's working on it?

1,219

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
    Couldwell WT7 papers · 2026

    Department of Neurosurgery, Clinical Neurosciences Center, University of Utah, Salt Lake City, Utah, USA.

    Papers in Europe PMC
  2. 02
    Hong T7 papers · 2026

    Jiangxi Key Laboratory of Neurological Diseases, Department of Neurosurgery, the First Affiliated Hospital, Jiangxi Medical College, Nanchang University, 17 Yong Wai Zheng Street, Nanchang, 330006, China. ndyfy00567@ncu.edu.cn.

    Papers in Europe PMC
  3. 03
    Rennert RC7 papers · 2026

    Department of Neurosurgery, Clinical Neurosciences Center, University of Utah, Salt Lake City, Utah, USA.

    Papers in Europe PMC
  4. 04
    Barkhoudarian G6 papers · 2026

    Department of Neurosurgery, Pacific Neuroscience Institute, Providence St. Johns Medical Center, Santa Monica, California, USA.

    Papers in Europe PMC
  5. 05
    Chicoine MR6 papers · 2026

    Department of Neurosurgery, University of Missouri, Columbia, Missouri, USA.

    Papers in Europe PMC
  6. 06
    Evans JJ6 papers · 2026

    Department of Neurosurgery, Jefferson University, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  7. 07
    Fernandez-Miranda JC6 papers · 2026

    Department of Neurosurgery, Stanford University, Palo Alto, California, USA.

    Papers in Europe PMC
  8. 08
    Karsy M6 papers · 2026

    Department of Neurosurgery, University of Michigan, Ann Arbor, Michigan, USA.

    Papers in Europe PMC
  9. 09
    Kim AH6 papers · 2026

    Department of Neurosurgery, Washington University School of Medicine, St. Louis, Missouri, USA.

    Papers in Europe PMC
  10. 10
    Kim W6 papers · 2026

    Department of Neurosurgery, University of California, Los Angeles, Los Angeles, California, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

44

interventional trials for this specific condition

44 interventional trials matched this specific condition name; 9 currently recruiting in our sample.

Data as of 11 September 2026

44 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.9th percentile).

medium confidence · 96.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

16 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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · dropped 0 · fetched 2026-07-29

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 (4)

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 Craniopharyngioma — 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.

"Craniopharyngioma" OR "Rathke pouch neoplasm" OR "Rathke pouch tumor" OR "Rathke pouch tumour" OR "Rathke's pouch neoplasm" OR "Rathke's pouch tumor" OR "Rathke's pouch tumour" OR "craniopharyngioma (WHO grade I)" OR "craniopharyngioma (morphologic abnormality)" OR "craniopharyngioma, benign" OR "neoplasm of Rathke's pouch" OR "neoplasm of the Rathke's pouch" OR "tumor of Rathke's pouch" OR "tumor of the Rathke's pouch" OR "tumour of Rathke's pouch" OR "tumour of the Rathke's pouch"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Craniopharyngioma

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

"Craniopharyngioma" OR "Rathke pouch neoplasm" OR "Rathke pouch tumor" OR "Rathke pouch tumour" OR "Rathke's pouch neoplasm" OR "Rathke's pouch tumor" OR "Rathke's pouch tumour" OR "craniopharyngioma (WHO grade I)" OR "craniopharyngioma (morphologic abnormality)" OR "craniopharyngioma, benign" OR "neoplasm of Rathke's pouch" OR "neoplasm of the Rathke's pouch" OR "tumor of Rathke's pouch" OR "tumor of the Rathke's pouch" OR "tumour of Rathke's pouch" OR "tumour of the Rathke's pouch"

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: 44 interventional · 16 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 2026-07-27T00:57:21.934Z