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ORPHA:178

Chordoma

low confidenceDisorder

Also known as: Notochordal sarcoma

Publications

12,354

Trials

48

Interventional, condition-specific

Researchers

1,378

Distinct authors in sample

Gene link

TBXT

Strong

Readiness

5/6

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — TBXT

  2. LiteraturePresent

    12,354 matched papers (6,850 in last 10 years) Source

  3. Phenotype characterisedPresent

    4 HPO annotations (e.g. Astrocytoma; Chordoma) 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. tazemetostat Source

  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)

4

Associated phenotypes · MONDO:0008978

  • Astrocytoma
  • Chordoma

Showing 2 of 4 — 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 · 1 with FDA orphan-indication approval

  • FDA tazemetostatChordoma · 2018-05-23 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

28

Drugs / clinical candidates · MONDO_0008978

CTD chemicals (MyDisease.info)

3 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Bortezomib · therapeutic
  • Sunitinib · therapeutic
  • Vincristine · therapeutic

MyDisease.info · MONDO:0008978

Literature

Is anyone studying this?

12,354

12,354 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.

12,354 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).

6,850 in the last 10 years · low confidence

Phrase hits: 11,353 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,378

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
    Bujko M7 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
  2. 02
    Gokaslan ZL7 papers · 2026

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

    Papers in Europe PMC
  3. 03
    Kober P7 papers · 2026

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

    Papers in Europe PMC
  4. 04
    Wei F6 papers · 2026

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

    Papers in Europe PMC
  5. 05
    Yang C6 papers · 2026

    Spinal Tumor Center, Department of Orthopedic Oncology, Changzheng Hospital, Shanghai, China.

    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
    Zhang Y6 papers · 2026

    Department of Microbiology Immunology, and Cancer Biology, University of Virginia (K.D., Y.Z., R.A.); Department of Neurology, University of Virginia (R.A.); University of Virginia Comprehensive Cancer Center , Charlottesville, VA 22908, USA (R.A.).

    Papers in Europe PMC
  8. 08
    Bai J5 papers · 2026

    Department of Oncology, Clinical Medical College & Affiliated Hospital of Chengdu University, Chengdu, Sichuan Province 610036, China.

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

    Department of Neurosurgery, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

    Papers in Europe PMC
  10. 10
    Mandat T5 papers · 2026

    Department of Neurosurgery, Maria Sklodowska-Curie National Research Institute of Oncology, Warsaw, Poland.

    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 11 September 2026 · last trial check 28 July 2026

48 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.1th percentile).

low confidence · 97.1th 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

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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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 (5)

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 Chordoma — 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.

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

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"

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: ok — strategies attempted: phrase; 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 (12354) 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