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ORPHA:668

Osteosarcoma

medium confidenceDisorder

Also known as: Osteogenic sarcoma

Publications

131,795

99.6th percentile

Trials

319

Interventional, condition-specific

Researchers

1,255

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.

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)

bone osteosarcoma · osteosarcoma of bone · osteosarcoma, somatic · osteosarcoma, 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.”

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

    131,795 matched papers (77,093 in last 10 years) Source

  3. Phenotype characterisedPresent

    14 HPO annotations (e.g. Osteolysis; Pain; Abnormal circulating lactate dehydrogenase concentration) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    5 FDA · 9 EMA designations (3 FDA orphan-indication approvals) — e.g. Pirarubicin Source

  6. Interventional trialPresent

    319 matched on ClinicalTrials.gov (73 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)

14

Associated phenotypes · MONDO:0002629

  • Osteolysis
  • Pain
  • Abnormal circulating lactate dehydrogenase concentration
  • Increased circulating lactate dehydrogenase concentration
  • Abnormal femoral metaphysis morphology

Showing 5 of 14 — 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)

14

Designations · 3 with FDA orphan-indication approval

  • FDA PirarubicinOsteosarcoma · 2020-10-29 · Not FDA Approved for Orphan Indication
  • FDA monoclonal antibody Hu3F8Osteosarcoma · 2014-01-10 · Not FDA Approved for Orphan Indication
  • FDA mifamuritideOsteosarcoma · 2001-06-05 · Not FDA Approved for Orphan Indication
  • EMA vactosertibTreatment of osteosarcoma · 25/07/2023 · PositiveEMA designation
  • EMA (E)-2-((2S,4S)-4-(((2R,4S,5S,6S)-4-amino-5-hydroxy-6-methyltetrahydro-2H-pyran-2-yl)oxy)-2,5,12-trihydroxy-7-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-2-yl)-10-(carboxymethyl)-1-hydroxy-13-(2-(2-(2-((E)-3-(3-((3-hydroxy-3,3 diphosphonopropyl)(methyl)amino)propoxy)benzylidene)hydrazine-1-carbonothioyl)hydrazineyl)-2-oxoethyl)-8-oxo-5-thioxo-3,4,6,7,10,13-hexaazapentadec-2-en-15-oic acidTreatment of osteosarcoma · 16/12/2019 · PositiveEMA designation
  • EMA live attenuated Listeria monocytogenes bioengineered with a chimeric human epidermal growth factor receptor 2 fused to a truncated form of the Lm protein listeriolysin OTreatment of osteosarcoma · 14/12/2015 · PositiveEMA designation
  • EMA toll-like receptor 4 agonistTreatment of osteosarcoma · 10/08/2022 · PositiveEMA designation
  • EMA sirolimusTreatment of osteosarcoma · 09/01/2026 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

131,795

131,795 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.

131,795 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).

77,093 in the last 10 years · medium confidence · 99.6th percentile (publications denominator)

Phrase hits: 131,795 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,255

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
    Chen X9 papers · 2026

    Department of Orthopedics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

    Papers in Europe PMC
  2. 02
    Zhang Y9 papers · 2026

    Department of Orthopedic, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China.

    Papers in Europe PMC
  3. 03
    Li J8 papers · 2026

    Department of Integrated Traditional Chinese and Western Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.

    Papers in Europe PMC
  4. 04
    Wang J8 papers · 2026

    Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Guangdong Provincial Clinical Research Center for Cancer, Guangzhou, Guangdong, China.

    Papers in Europe PMC
  5. 05
    Wang Y7 papers · 2026

    Department of Biomedical Engineering, College of Future Technology, Peking University, Beijing, China.

    Papers in Europe PMC
  6. 06
    Liu J6 papers · 2026

    Department of Orthopedics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, People's Republic of China.

    Papers in Europe PMC
  7. 07
    Li Z5 papers · 2026

    Key Laboratory for Technology Research and Evaluation of Drug Products, School of Pharmaceutical Sciences, Cheeloo College of Medicine, Shandong University, 44 Wenhuaxi Road, Jinan, Shandong Province 250012, China.

    Papers in Europe PMC
  8. 08
    Liu Y5 papers · 2026

    Department of Thoracic Surgery/Bone and Soft Tissue Surgery, Hubei Cancer Hospital, Tongji Medical College, Huazhong University of Science and Technology Wuhan 430079, Hubei, China.

    Papers in Europe PMC
  9. 09
    Zhang Z5 papers · 2026

    Department of Orthopedics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, People's Republic of China.

    Papers in Europe PMC
  10. 10
    Li H4 papers · 2026

    Institute of Biomedical Sciences Shandong Provincial Key Laboratory of Animal Resistance Biology Collaborative Innovation Center of Cell Biology in Universities of Shandong Center For Cell Structure and Function College of Life Sciences Shandong Normal University Jinan China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

319

interventional trials for this specific condition

319 interventional trials matched this specific condition name; 73 currently recruiting in our sample.

Data as of 11 September 2026

319 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99.6th percentile).

medium confidence · 99.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

80 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 29 · after dedupe 29 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 29 · 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 (29)

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 Osteosarcoma — 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.

"Osteosarcoma" OR "Osteogenic sarcoma" OR "bone osteosarcoma" OR "osteosarcoma of bone" OR "osteosarcoma of the bone" OR "osteosarcoma, somatic" OR "osteosarcoma, somatic mutation"

Run this search on Europe PMC

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

"Osteosarcoma" OR "Osteogenic sarcoma" OR "bone osteosarcoma" OR "osteosarcoma of bone" OR "osteosarcoma of the bone" OR "osteosarcoma, somatic" OR "osteosarcoma, somatic mutation"

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: 319 interventional · 80 observational · 3 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

Ingested 2026-07-26T14:49:59.724Z