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ORPHA:780

Rhabdomyosarcoma

low confidenceDisorder

Publications

86,588

Trials

212

Interventional, condition-specific

Researchers

1,476

Distinct authors in sample

Gene link

BUB1B, CDKN1C, HRAS

Moderate

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

rhabdomyosarcoma · rhabdomyosarcoma (disease) · rhabdomyosarcoma, malignant

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

    Moderate — BUB1B, CDKN1C, HRAS, MLH1, MSH2…

  2. LiteraturePresent

    86,588 matched papers (51,339 in last 10 years) Source

  3. Phenotype characterisedPresent

    11 HPO annotations (e.g. Thyroid nodule; Nephroblastoma; Alveolar rhabdomyosarcoma) Source

  4. Animal modelPresent

    6 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    212 matched on ClinicalTrials.gov (47 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?

Probably — there is moderate evidence for BUB1B, CDKN1C, HRAS….

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

11

Associated phenotypes · MONDO:0005212

  • Thyroid nodule
  • Nephroblastoma
  • Alveolar rhabdomyosarcoma
  • Embryonal rhabdomyosarcoma
  • Ovarian thecoma

Showing 5 of 11 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

Model associations linked to this Mondo ID

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

95

Drugs / clinical candidates · MONDO_0005212

CTD chemicals (MyDisease.info)

34 associated chemicals · 76 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine · therapeutic
  • Antifungal Agents · therapeutic
  • Bortezomib · therapeutic
  • Ciclopirox · therapeutic
  • Cisplatin · therapeutic
  • Cyclophosphamide · therapeutic
  • Cytarabine · therapeutic
  • Dacarbazine · therapeutic
  • Dactinomycin · therapeutic
  • Decitabine · therapeutic
  • Doxorubicin · therapeutic
  • Etoposide · therapeutic

Pathways: EGFR tyrosine kinase inhibitor resistance; Mismatch repair; Fanconi anemia pathway; Ras signaling pathway; Rap1 signaling pathway; cAMP signaling pathway; Cytokine-cytokine receptor interaction; HIF-1 signaling pathway

MyDisease.info · MONDO:0005212

Literature

Is anyone studying this?

86,588

86,588 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.

86,588 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).

51,339 in the last 10 years · low confidence

Phrase hits: 57,596 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,476

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
    Merks JHM7 papers · 2026

    Princess Máxima Centre for Paediatric Oncology, Utrecht, Netherlands.

    Papers in Europe PMC
  2. 02
    Wang J6 papers · 2026

    Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, Texas.

    Papers in Europe PMC
  3. 03
    Bisogno G5 papers · 2026

    Department of Women's and Children's Health, University of Padua, Padua, Italy.

    Papers in Europe PMC
  4. 04
    Li Y5 papers · 2026

    Department of Urology, Shaoxing People's Hospital, Shaoxing, CN 312000, China.

    Papers in Europe PMC
  5. 05
    Slater O5 papers · 2026

    Department of Paediatric Oncology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.

    Papers in Europe PMC
  6. 06
    Wang Y5 papers · 2026

    Division of Pediatrics, Children's Cancer Hospital, The University of Texas MD Anderson Cancer Center, Houston, Texas.

    Papers in Europe PMC
  7. 07
    Zhang Y5 papers · 2026

    National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Department of Pediatric Surgical Oncology Children's Hospital of Chongqing Medical University, Chongqing, China.

    Papers in Europe PMC
  8. 08
    Fajardo RD4 papers · 2026

    Department of Radiation Oncology, University Medical Centre Utrecht, Utrecht, the Netherlands.

    Papers in Europe PMC
  9. 09
    Gaze MN4 papers · 2026

    Department of Oncology, University College London Hospitals NHS Foundation Trust, London, United Kingdom.

    Papers in Europe PMC
  10. 10
    Li T4 papers · 2026

    Department of Obstetrics, Qingdao Chengyang People's Hospital, Qingdao, Shandong, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

212

interventional trials for this specific condition

212 interventional trials matched this specific condition name; 47 currently recruiting in our sample.

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

212 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99.3th percentile).

low confidence · 99.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

34 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 85 · after dedupe 84 · already on CT.gov 1 · kept 0 · parent 0 · uncertain 83 · 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 (83)

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 Rhabdomyosarcoma — 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.

("Rhabdomyosarcoma" OR "rhabdomyosarcoma (disease)" OR "rhabdomyosarcoma, malignant") OR ("BUB1B" OR "BUB1B syndrome" OR "BUB1B-related" OR "CDKN1C" OR "CDKN1C syndrome" OR "CDKN1C-related" OR "MSH6" OR "MSH6 syndrome" OR "MSH6-related")

Run this search on Europe PMC

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

"Rhabdomyosarcoma" OR "rhabdomyosarcoma (disease)" OR "rhabdomyosarcoma, 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: 212 interventional · 34 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

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 (86588) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T15:19:59.876Z