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ORPHA:99756

Alveolar rhabdomyosarcoma

low confidenceSubtype of disorder

Publications

3,883

Trials

12

Interventional, condition-specific

Researchers

1,254

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

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 (11)

ARMS · alveolar rhabdomyosarcoma · alveolar rhabdomyosarcoma (disease) · alveolar rhabdomyosarcoma (morphologic abnormality) · arms · monomorphous round cell rhabdomyosarcoma · paediatric alveolar rhabdomyosarcoma · pediatric alveolar rhabdomyosarcoma · rhabdomyosarcoma 2, alveolar, somatic mutation · rhabdomyosarcoma type 2 · rhabdomyosarcoma, alveolar, 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

    3,883 matched papers (2,040 in last 10 years) Source

  3. Phenotype characterisedPresent

    1 HPO annotations (e.g. Alveolar rhabdomyosarcoma) Source

  4. Animal modelPresent

    4 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

    12 matched on ClinicalTrials.gov (2 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)

1

Associated phenotypes · MONDO:0009994

  • Alveolar rhabdomyosarcoma

Animal models (Monarch / Alliance)

4

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

22

Drugs / clinical candidates · MONDO_0009994

CTD chemicals (MyDisease.info)

1 associated chemical · 83 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Bortezomib · therapeutic

Pathways: FoxO signaling pathway; p53 signaling pathway; AMPK signaling pathway; Longevity regulating pathway; Longevity regulating pathway - multiple species; Hippo signaling pathway; Hippo signaling pathway -multiple species; Neurotrophin signaling pathway

MyDisease.info · MONDO:0009994

Literature

Is anyone studying this?

3,883

3,883 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

3,883 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).

2,040 in the last 10 years · low confidence

Phrase hits: 3,878 · MeSH hits: 10

Open Europe PMC search

Who's working on it?

1,254

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 Z6 papers · 2025

    Department of Nuclear Medicine, Peking University First Hospital, Beijing, China.

    Papers in Europe PMC
  2. 02
    Seitz G6 papers · 2024

    Department of Pediatric Surgery, University Hospital Marburg, Baldingerstrasse, 35033, Marburg, Germany.

    Papers in Europe PMC
  3. 03
    Adamus A5 papers · 2022

    Department of Pediatric Surgery, University Hospital Marburg, Baldingerstrasse, 35033, Marburg, Germany.

    Papers in Europe PMC
  4. 04
    Engel N5 papers · 2022

    Department of Pediatric Surgery, University Hospital Marburg, Baldingerstrasse, 35033, Marburg, Germany. nadja.engel@med.uni-rostock.de.

    Papers in Europe PMC
  5. 05
    Wang S4 papers · 2026

    Department of Endocrinology, First Affiliated Hospital of Jinzhou Medical University, Jinzhou, People's Republic of China.

    Papers in Europe PMC
  6. 06
    Barr FG3 papers · 2026

    Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland.

    Papers in Europe PMC
  7. 07
    Chen L3 papers · 2026

    Institute of Molecular Medicine, National Tsing Hua University, Hsinchu, Taiwan, No. 101, Section 2, Kuang-Fu Road, Hsinchu, 30013, Taiwan.

    Papers in Europe PMC
  8. 08
    Dermawan JK3 papers · 2026

    Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.

    Papers in Europe PMC
  9. 09
    Frank M3 papers · 2021

    Medical Biology and Electron Microscopy Center, Rostock University Medical Center, Rostock, Germany.

    Papers in Europe PMC
  10. 10
    Koscielniak E3 papers · 2025

    Klinikum Stuttgart, Olgahospital, Pediatrics 5 (Oncology, Hematology, Immunology), Stuttgart, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

12

interventional trials for this specific condition

12 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 200 trials are registered for rhabdomyosarcoma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

12 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.2th percentile).

low confidence · 93.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: rhabdomyosarcoma

200

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

2 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.

None of the matched observational studies is currently listed as 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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · dropped 0 · fetched 2026-07-30

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 (4)

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 Alveolar 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.

"Alveolar rhabdomyosarcoma" OR "alveolar rhabdomyosarcoma (disease)" OR "alveolar rhabdomyosarcoma (morphologic abnormality)" OR "monomorphous round cell rhabdomyosarcoma" OR "paediatric alveolar rhabdomyosarcoma" OR "pediatric alveolar rhabdomyosarcoma" OR "rhabdomyosarcoma 2, alveolar, somatic mutation" OR "rhabdomyosarcoma type 2" OR "rhabdomyosarcoma, alveolar, somatic mutation"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Rhabdomyosarcoma, Alveolar

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

"Alveolar rhabdomyosarcoma" OR "alveolar rhabdomyosarcoma (disease)" OR "alveolar rhabdomyosarcoma (morphologic abnormality)" OR "monomorphous round cell rhabdomyosarcoma" OR "paediatric alveolar rhabdomyosarcoma" OR "pediatric alveolar rhabdomyosarcoma" OR "rhabdomyosarcoma 2, alveolar, somatic mutation" OR "rhabdomyosarcoma type 2" OR "rhabdomyosarcoma, alveolar, somatic mutation" OR "Rhabdomyosarcoma, Alveolar"

Interventional trials matched via: both, phrase, mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 12 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"rhabdomyosarcoma"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: ARMS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (3883) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T06:16:04.943Z