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ORPHA:55880

Chondrosarcoma

medium confidenceDisorder

Publications

32,156

98.1th percentile

Trials

65

Interventional, condition-specific

Researchers

1,236

Distinct authors in sample

Gene link

EXT1

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Chondrosarcoma is a malignant bone tumor arising from cartilaginous tissue, most frequently occuring at the ends of the femur and tibia, the proximal end of the humerus and the pelvis; and presenting with a palpable mass and pain. Chondrosarcoma is usually slow growing at low histological grades and can be well managed by intralesional curettage or en-block wide resection.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

chondrosarcoma · chondrosarcoma (disease) · chondrosarcoma, malignant · chondrosarcoma, somatic mutation

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 — EXT1

  2. LiteraturePresent

    32,156 matched papers (16,468 in last 10 years) Source

  3. Phenotype characterisedPresent

    3 HPO annotations (e.g. Chondrosarcoma; Adult onset) Source

  4. Animal modelNot found

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

  5. Orphan designationPartial

    3 EMA designations (none yet with FDA orphan-indication approval) — e.g. Ivosidenib Source

  6. Interventional trialPresent

    65 matched on ClinicalTrials.gov (11 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 (EXT1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

3

Associated phenotypes · MONDO:0008977

  • Chondrosarcoma
  • Adult onset

Showing 2 of 3 — 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)

3

Designations · no FDA orphan-indication approval yet

  • EMA IvosidenibTreatment of chondrosarcoma · 10/11/2024 · PositiveEMA designation
  • EMA Humanised IgG1 tetravalent monoclonal antibody against death receptor 5Treatment of chondrosarcoma · 10/08/2022 · PositiveEMA designation
  • EMA [N-((2S,3R,3aS,3'R,4a'R,6S,6a'R,6b'S,7aR,12a'S,12b'S,Z)-3,6,11',12b'-tetramethyl-2',3a,3',4,4',4a',5,5',6,6',6a',6b',7,7a,7',8',10',12',12a',12b'-icosahydro-1'H,3H-spiro[furo[3,2-b]pyridine-2,9'-naphtho[2,1-a]azulene]-3'-yl)methanesulfonamide hydrochloride]Treatment of chondrosarcoma · 13/05/2011 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

41

Drugs / clinical candidates · MONDO_0008977

CTD chemicals (MyDisease.info)

1 associated chemical · 17 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Methotrexate · therapeutic

Pathways: Glycosaminoglycan biosynthesis - heparan sulfate / heparin; Metabolic pathways; PI3K-Akt signaling pathway; Focal adhesion; ECM-receptor interaction; Protein digestion and absorption; Glycosaminoglycan biosynthesis, heparan sulfate backbone; Metabolism

MyDisease.info · MONDO:0008977

Literature

Is anyone studying this?

32,156

32,156 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.

32,156 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).

16,468 in the last 10 years · medium confidence · 98.1th percentile (publications denominator)

Phrase hits: 29,117 · MeSH hits: 1,339

Open Europe PMC search

Who's working on it?

1,236

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
    Li Z5 papers · 2025

    Department of Orthopedics, Orthopedic Research Institute, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  2. 02
    Liu X5 papers · 2025

    The Musculoskeletal Tumor Center, Peking University People's Hospital, Xicheng District, Beijing, China.

    Papers in Europe PMC
  3. 03
    Wang J4 papers · 2026

    The Musculoskeletal Tumor Center, Peking University People's Hospital, Xicheng District, Beijing, China.

    Papers in Europe PMC
  4. 04
    Yang X4 papers · 2024

    Department of Thoracic Surgery, Sichuan Clinical Research Center for Cancer, Sichuan Cancer Hospital & Institute, Sichuan Cancer Center, Affiliated Cancer Hospital of University of Electronic Science and Technology of China, No. 55, Section 4, South Renmin Road, Chengdu, 610041, Sichuan, China.

    Papers in Europe PMC
  5. 05
    Zhang Y4 papers · 2025

    Department of Orthopedics, Orthopedic Research Institute, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  6. 06
    Botchu R3 papers · 2025

    Consultant MSK Radiologist, Royal Orthopedic Hospital, Birmingham, B31 2AP, UK.

    Papers in Europe PMC
  7. 07
    Hu P3 papers · 2025

    Department of Orthopedics and Beijing Key Laboratory of Spinal Disease Research, Peking University Third Hospital, 49 North Garden Rd, Haidian District, Beijing, 100191, China.

    Papers in Europe PMC
  8. 08
    Li J3 papers · 2025

    Department of Pharmaceutical Health Outcomes and Policy, University of Houston College of Pharmacy, Houston, TX, USA.

    Papers in Europe PMC
  9. 09
    Li Y3 papers · 2025

    Department of Orthopedics, Xiangya Hospital, Central South University, Changsha, Hunan, China.

    Papers in Europe PMC
  10. 10
    Liu C3 papers · 2024

    Department of Thoracic Surgery, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

65

interventional trials for this specific condition

65 interventional trials matched this specific condition name; 11 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

65 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.8th percentile).

medium confidence · 97.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

15 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 71 · after dedupe 71 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 71 · 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 (71)

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 Chondrosarcoma — 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.

("Chondrosarcoma" OR "chondrosarcoma (disease)" OR "chondrosarcoma, malignant" OR "chondrosarcoma, somatic mutation") OR (MESH:"Chondrosarcoma") OR ("EXT1" OR "EXT1 syndrome" OR "EXT1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Chondrosarcoma

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

"Chondrosarcoma" OR "chondrosarcoma (disease)" OR "chondrosarcoma, malignant" OR "chondrosarcoma, somatic mutation"

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: 65 interventional · 15 observational · 2 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 2026-07-27T00:58:26.088Z