RARE DISEASERESEARCH ATLAS
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ORPHA:178

Chordoma

low confidenceDisorder

Also known as: Notochordal sarcoma

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

11,353

Trials

48

Interventional, condition-specific

Researchers

1,319

Distinct authors in sample

Gene link

TBXT

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

chordoma · chordoma (disease) · chordoma, malignant · notochordal sarcoma

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — TBXT

  2. LiteraturePresent

    11,353 matched papers (5,919 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

    48 matched on ClinicalTrials.gov (6 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?

Yes — we know a specific gene responsible (TBXT).

GenCC classification: Strong.

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?

11,353

11,353 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=5449) is 41.

11,353 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).

5,919 in the last 10 years · low confidence

Phrase hits: 11,353 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,319

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
    Gokaslan ZL10 papers · 2026

    Department of Neurosurgery, The Warren Alpert Medical School of Brown University, Providence, RI, USA.

    Papers in Europe PMC
  2. 02
    Wei F7 papers · 2026

    7Orthopaedic Department, Peking University Third Hospital, Beijing, China.

    Papers in Europe PMC
  3. 03
    Bujko M6 papers · 2026

    Department of Molecular and Translational Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland. mateusz.bujko@pib-nio.pl.

    Papers in Europe PMC
  4. 04
    Dea N6 papers · 2026

    Department of Neurosurgery, The University of British Columbia, Vancouver, BC, Canada.

    Papers in Europe PMC
  5. 05
    Kober P6 papers · 2026

    Department of Molecular and Translational Oncology, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

    Papers in Europe PMC
  6. 06
    Zhang H6 papers · 2026

    Department of Orthopedic Oncology, Changzheng Hospital, Second Military Medical University, Shanghai, China.

    Papers in Europe PMC
  7. 07
    Bettegowda C5 papers · 2026

    9Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland.

    Papers in Europe PMC
  8. 08
    Gardner PA5 papers · 2026

    Department of Neurological Surgery, UPMC, Pittsburgh, PA, USA.

    Papers in Europe PMC
  9. 09
    Xiao J5 papers · 2026

    The Second Affiliated Hospital of Naval Medical University, Shanghai, China. jianruxiao83@163.com.

    Papers in Europe PMC
  10. 10
    Yang C5 papers · 2026

    Department of Orthopedic Oncology, The Second Affiliated Hospital of Naval Medical University, Shanghai, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

48

interventional trials for this specific condition

48 interventional trials matched this specific condition name; 6 currently recruiting in our sample.

Data as of 27 July 2026

48 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 97th percentile).

low confidence · 97th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

14 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

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.

"Chordoma" OR "Notochordal sarcoma" OR "chordoma (disease)" OR "chordoma, malignant"

Run this search on Europe PMC

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

"Chordoma" OR "Notochordal sarcoma" OR "chordoma (disease)" OR "chordoma, malignant" OR "TBXT"

Recall-expansion terms: TBXT

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: 48 interventional · 14 observational · 2 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

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
  • Publication count (11353) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T12:46:22.092Z