RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:319

Skeletal Ewing sarcoma

low confidenceDisorder

Also known as: Osseous Ewing sarcoma

Publications

26,483

Trials

223

Interventional, condition-specific

Researchers

1,340

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

ES · Ewing sarcoma · Ewing's family localised tumour · Ewing's sarcoma · Ewing's tumor · Ewing's tumour

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

    26,483 matched papers (14,806 in last 10 years) Source

  3. Phenotype characterisedPresent

    1 HPO annotations (e.g. Ewing sarcoma) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. ganitumab Source

  6. Interventional trialPresent

    223 matched on ClinicalTrials.gov (46 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)

1

Associated phenotypes · MONDO:0012817

  • Ewing sarcoma

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 · 1 with FDA orphan-indication approval

  • FDA ganitumabewing sarcoma · 2017-03-21 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

129

Drugs / clinical candidates · MONDO_0012817

CTD chemicals (MyDisease.info)

20 associated chemicals · 8 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Arsenic Trioxide · therapeutic
  • Busulfan · therapeutic
  • Caffeine · therapeutic
  • Carboplatin · therapeutic
  • Cisplatin · therapeutic
  • Cyclophosphamide · therapeutic
  • Dactinomycin · therapeutic
  • Doxorubicin · therapeutic
  • Etoposide · therapeutic
  • IE protocol · therapeutic
  • Ifosfamide · therapeutic
  • JET protocol · therapeutic

Pathways: Hepatitis B; HTLV-I infection; Transcriptional misregulation in cancer; Viral carcinogenesis; Developmental Biology; Transcriptional regulation of white adipocyte differentiation; Activation of anterior HOX genes in hindbrain development during early embryogenesis; Activation of HOX genes during differentiation

MyDisease.info · MONDO:0012817

Literature

Is anyone studying this?

26,483

26,483 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.

26,483 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).

14,806 in the last 10 years · low confidence

Phrase hits: 26,483 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,340

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
    Gambarotti M5 papers · 2026

    Department of Pathology, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.

    Papers in Europe PMC
  2. 02
    Aiba H3 papers · 2026

    Department of Orthopedic Surgery, Nagoya City University, Nagoya, Aichi, 467-8601, Japan.

    Papers in Europe PMC
  3. 03
    Allali N3 papers · 2026

    Department of Radiology, Rabat Children's Hospital, University Mohammed V of Rabat, Morocco.

    Papers in Europe PMC
  4. 04
    Chat L3 papers · 2026

    Department of Radiology, Rabat Children's Hospital, University Mohammed V of Rabat, Morocco.

    Papers in Europe PMC
  5. 05
    Dirksen U3 papers · 2026

    Pediatrics III, University Hospital Essen, German Cancer Consortium (DKTK) Site Essen, Cancer Research Center (NCT) Cologne-Essen, Hufelandstraße 55, 45147 Essen, Germany.

    Papers in Europe PMC
  6. 06
    Donati DM3 papers · 2026

    Clinica Ortopedica e Traumatologica III a Prevalente Indirizzo Oncologico, IRCCS Istituto Ortopedico Rizzoli, Via Giulio Cesare Pupilli1, 40136 Bologna, Italy.

    Papers in Europe PMC
  7. 07
    Errani C3 papers · 2026

    Department of Orthopedic Oncology, IRCCS Istituto Ortopedico Rizzoli, 40136, Bologna, Italy.

    Papers in Europe PMC
  8. 08
    Kumar M3 papers · 2025

    Urology, Arrowe Park Hospital, Wirral University Teaching Hospital NHS Foundation Trust, Wirral, GBR.

    Papers in Europe PMC
  9. 09
    Spinnato P3 papers · 2026

    Diagnostic and Interventional Radiology, IRCCS Istituto Ortopedico Rizzoli, 40136, Bologna, Italy.

    Papers in Europe PMC
  10. 10
    Xu J3 papers · 2026

    Department of Nuclear Medicine.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

223

interventional trials for this specific condition

223 interventional trials matched this specific condition name; 46 currently recruiting in our sample. 1,434 trials are registered for sarcoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

223 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99.4th percentile).

low confidence · 99.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: sarcoma

1,434

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

Observational and natural-history studies

36 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 31 · after dedupe 31 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 31 · 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 (31)

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 Skeletal Ewing sarcoma — 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.

"Skeletal Ewing sarcoma" OR "Osseous Ewing sarcoma" OR "Ewing sarcoma" OR "Ewing's family localised tumour" OR "Ewing's sarcoma" OR "Ewing's tumor" OR "Ewing's tumour"

Run this search on Europe PMC

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

"Skeletal Ewing sarcoma" OR "Osseous Ewing sarcoma" OR "Ewing sarcoma" OR "Ewing's family localised tumour" OR "Ewing's sarcoma" OR "Ewing's tumor" OR "Ewing's tumour"

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: 223 interventional · 36 observational · 2 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"sarcoma"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: ES

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
  • Publication count (26483) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:23:12.423Z