ORPHA:48918
Focal myositis
Also known as: Focal nodular myositis · Inflammatory pseudotumor of skeletal muscle
Publications
581
Trials
0
Interventional, condition-specific
Researchers
1,043
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare inflammatory characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018845
- UMLS:C0409988
Additional Mondo synonyms (2)
focal nodular myositis · inflammatory pseudotumor of skeletal muscle
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
581 matched papers (253 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
581
581 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=5449) is 41.
581 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
253 in the last 10 years · low confidence
Phrase hits: 581 · MeSH hits: 0
Who's working on it?
1,043
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Gallay L5 papers · 2024
University Claude Bernard Lyon-I, France; Department of Clinical Immunology, Pavillon O, Edouard Herriot University Hospital, 5 place d'Arsonval, 69437 Lyon Cedex 03, France; NeuroMyoGen Institute, CNRS UMR 5310 - INSERM U1217, France.
Papers in Europe PMC - 02Streichenberger N5 papers · 2024
University Claude Bernard Lyon-I, France; NeuroMyoGen Institute, CNRS UMR 5310 - INSERM U1217, France; Department of Pathology, Lyon East University Hospital, 69 Bdv Pinel, 69677 Bron-Cedex, France.
Papers in Europe PMC - 03Hot A3 papers · 2024
From the Department of Internal Medicine (L.G., A.H.), Edouard Herriot University Hospital, Hospices Civils de Lyon; University Claude Bernard (L.G., A.H., F.T.-B., N.S.); INMG (L.G.), CNRS UMR 5310-INSERM U1217; Department of Neurology (P.P.), Croix-Rousse Hospital, Hospices Civils de Lyon; Department of Pathology, Neurology and Neurosurgery (F.T.-B., N.S.), Pierre Wertheimer University Hospital, Hospices Civils de Lyon; Service de Biostatistique (D.M.-B.), Hospices Civils de Lyon; Université de Lyon (D.M.-B.); Université Lyon 1 (D.M.-B.); and CNRS UMR5558 (D.M.-B.), Laboratoire de Biométrie et Biologie Evolutive, Equipe Biostatistique-Santé, Villeurbanne, France.
Papers in Europe PMC - 04Petiot P3 papers · 2024
Department of Neurology, Croix-Rousse University Hospital, 103 Grande Rue de la Croix-Rousse, 69004 Lyon, France.
Papers in Europe PMC - 05Wang J3 papers · 2025
Department of Neurology, Sanbo Brain Hospital, Capital Medical University, Beijing, China.
Papers in Europe PMC - 06Zhao G3 papers · 2022
Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu, China.
Papers in Europe PMC - 07Afonso C2 papers · 2019
Hospital Conde de Bertiandos - Unidade Local de Saúde do Alto Minho, Ponte de Lima, Portugal.
Papers in Europe PMC - 08Allenbach Y2 papers · 2023
Département de médecine interne et immunologie clinique, groupe hospitalier Pitié-Salpêtrière, centre de référence des maladies neuromusculaires Paris-Est, hôpital Pitié-Salpêtrière, Sorbonne universités, UPMC université Paris 06, AP-HP, 80, boulevard de l'Hôpital, 75013 Paris, France; UMR974, centre de recherche en myologie, Inserm, université Pierre-et-Marie-Curie, Sorbonnes universités, 75013 Paris, France. Electronic address: yves.allenbach@psl.aphp.fr.
Papers in Europe PMC - 09Baima JP2 papers · 2025
Division of Neurology, Faculdade de Medicina, Hospital das Clínicas HCFMUSP, Universidade de São Paulo, São Paulo, SP, Brazil.
Papers in Europe PMC - 10Bonfanti E2 papers · 2023
Internal Medicine Department Città della Salute e della Scienza Torino Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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.
"Focal myositis" OR "Focal nodular myositis" OR "Inflammatory pseudotumor of skeletal muscle" OR "Inflammatory pseudotumor of the skeletal muscle"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Focal myositis" OR "Focal nodular myositis" OR "Inflammatory pseudotumor of skeletal muscle" OR "Inflammatory pseudotumor of the skeletal muscle"
Study-type breakdown: 0 interventional · 0 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (581) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T00:17:02.854Z