RARE DISEASERESEARCH ATLAS

ORPHA:730281

Sclerosing epithelioid fibrosarcoma

low confidenceDisorder

Also known as: SEF

Publications

548

Trials

4

Interventional, condition-specific

Researchers

1,356

Distinct authors in sample

Gene link

Readiness

2/6

Stages with a signal

Orphanet entry

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

    548 matched papers (401 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov (1 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)

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?

548

548 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=5449) is 41.

548 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).

401 in the last 10 years · low confidence

Phrase hits: 548 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,356

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
    Antonescu CR7 papers · 2026

    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York.

    Papers in Europe PMC
  2. 02
    Agaimy A5 papers · 2025

    Institute of Pathology, Friedrich-Alexander-University Erlangen-Nürnberg, University Hospital, Krankenhausstrasse 8-10, 91054, Erlangen, Germany. abbas.agaimy@uk-erlangen.de.

    Papers in Europe PMC
  3. 03
    Dermawan JK5 papers · 2026

    Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.

    Papers in Europe PMC
  4. 04
    Dickson BC5 papers · 2024

    Department of Pathology & Laboratory Medicine, Mount Sinai Hospital, Toronto, Canada.

    Papers in Europe PMC
  5. 05
    Lazar AJ5 papers · 2025

    James Cancer Center, Ohio State University, Columbus, OH, USA.

    Papers in Europe PMC
  6. 06
    Subbiah V5 papers · 2025

    Department of Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.

    Papers in Europe PMC
  7. 07
    Baumhoer D4 papers · 2025

    Bone Tumor Reference Centre, Institute of Pathology, University Hospital Basel, University of Basel, Basel, Switzerland.

    Papers in Europe PMC
  8. 08
    Dei Tos AP4 papers · 2025

    Department of Pathology, Azienda Ospedale Università Padova, Padova, Italy.

    Papers in Europe PMC
  9. 09
    Gross JM4 papers · 2026

    Departments of Pathology.

    Papers in Europe PMC
  10. 10
    Maki RG4 papers · 2026

    Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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 2026-07-26

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.

"Sclerosing epithelioid fibrosarcoma"

Run this search on Europe PMC

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

"Sclerosing epithelioid fibrosarcoma"

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: 4 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

Synonyms dropped by stoplist: SEF

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
  • No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low

Ingested 2026-07-27T21:33:44.330Z