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ORPHA:732

Polymyositis

low confidenceDisorder

Publications

18,613

Trials

45

Interventional, condition-specific

Researchers

1,264

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare inflammatory (IIM) historically characterized by symmetric proximal muscle weakness, elevated muscle enzymes (creatine kinase), myopathic findings on electromyography, and muscle biopsy showing endomyial infiltration composed mainly of macrophages and lymphocytes. The features are non-specific, thus the disease should be distinguished from similar entities with specific clinical, immunological, histological features, notably dermatomyositis, immune-mediated necrotizing , anti-synthetase syndrome, inclusion body myositis, and myositis associated with other connective tissue disorder.

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 (2)

PM · polymyositis

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    18,613 matched papers (8,437 in last 10 years) Source

  3. Phenotype characterisedPresent

    183 HPO annotations (e.g. Hypotonia; Elevated circulating creatine kinase activity; Proximal muscle weakness) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA · 2 EMA designations (1 FDA orphan-indication approval) — e.g. Siponimod Source

  6. Interventional trialPresent

    45 matched on ClinicalTrials.gov (10 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)

183

Associated phenotypes · MONDO:0019127

  • Hypotonia
  • Elevated circulating creatine kinase activity
  • Proximal muscle weakness
  • Abnormal muscle fiber morphology
  • Elevated circulating aldolase concentration

Showing 5 of 183 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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)

3

Designations · 1 with FDA orphan-indication approval

  • FDA SiponimodPolymyositis · 2013-11-26 · Not FDA Approved for Orphan Indication
  • EMA human immunoglobulinTreatment of polymyositis · 24/10/2003 · WithdrawnEMA designation
  • EMA siponimodTreatment of polymyositis · 19/11/2014 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

28

Drugs / clinical candidates · MONDO_0019127

CTD chemicals (MyDisease.info)

27 associated chemicals · 107 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Adrenal Cortex Hormones · therapeutic
  • Adrenocorticotropic Hormone · therapeutic
  • Azathioprine · therapeutic
  • Methotrexate · therapeutic
  • Methylprednisolone · therapeutic
  • Mycophenolic Acid · therapeutic
  • Prednisolone · therapeutic
  • Prednisone · therapeutic
  • Ampicillin · marker/mechanism
  • Atorvastatin · marker/mechanism
  • Celecoxib · marker/mechanism
  • Cholecalciferol · marker/mechanism

Pathways: Steroid biosynthesis; Metabolic pathways; EGFR tyrosine kinase inhibitor resistance; Antifolate resistance; MAPK signaling pathway; Cytokine-cytokine receptor interaction; NF-kappa B signaling pathway; HIF-1 signaling pathway

MyDisease.info · MONDO:0019127

Literature

Is anyone studying this?

18,613

18,613 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.

18,613 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).

8,437 in the last 10 years · low confidence

Phrase hits: 18,613 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,264

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 M5 papers · 2026

    Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China. Electronic address: mengtao.li@cstar.org.cn.

    Papers in Europe PMC
  2. 02
    Li Z5 papers · 2026

    Department of Pharmacy, Dalian Women and Children's Medical Center (Group), Dalian, China.

    Papers in Europe PMC
  3. 03
    Aggarwal R3 papers · 2026

    Division of Rheumatology and Clinical Immunology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. aggarwalr@upmc.edu.

    Papers in Europe PMC
  4. 04
    Chang YS3 papers · 2026

    Division of Allergy, Immunology, and Rheumatology, Department of Internal Medicine, Taipei Medical University, Shuang Ho Hospital, Ministry of Health and Welfare, New Taipei City, Taiwan risea65@gmail.com.

    Papers in Europe PMC
  5. 05
    Che WI3 papers · 2026

    Department of Public Health and Medicinal Administration, Faculty of Health Sciences, University of Macau, Macau SAR, China.

    Papers in Europe PMC
  6. 06
    Chen Y3 papers · 2026

    Department of Medical Imaging, the First Affiliated Hospital of Xi'an Jiaotong University, 277 West Yanta Road, Xi'an, Shaanxi 710061, PR China (K.Y., Y.C., L.H., Y.S., H.H., J.Z., C.J.).

    Papers in Europe PMC
  7. 07
    Holmqvist M3 papers · 2026

    ME Gastro, Derm and Rheuma, Theme Inflammation and Aging, Karolinska University Hospital, Stockholm, Sweden; Division of clinical epidemiology, Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden. Electronic address: marie.holmqvist@ki.se.

    Papers in Europe PMC
  8. 08
    Kao JH3 papers · 2026

    Division of Allergy, Immunology, and Rheumatology, Department of Internal Medicine, Taipei Medical University, Shuang Ho Hospital, Ministry of Health and Welfare, New Taipei City, Taiwan.

    Papers in Europe PMC
  9. 09
    Lee IP3 papers · 2026

    Division of Allergy, Immunology, and Rheumatology, Department of Internal Medicine, Taipei Medical University, Shuang Ho Hospital, Ministry of Health and Welfare, New Taipei City, Taiwan.

    Papers in Europe PMC
  10. 10
    Li H3 papers · 2026

    Department of Rheumatology and Immunology, The Affiliated Hospital of Qingdao University, Qingdao, Shandong, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

45

interventional trials for this specific condition

45 interventional trials matched this specific condition name; 10 currently recruiting in our sample.

Data as of 11 September 2026

45 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97th percentile).

low confidence · 97th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

21 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 32 · after dedupe 32 · already on CT.gov 1 · kept 0 · parent 0 · uncertain 31 · 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 (31)

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 Polymyositis — 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.

"Polymyositis"

Run this search on Europe PMC

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

"Polymyositis"

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: 45 interventional · 21 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

Synonyms dropped by stoplist: PM

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:06:16.141Z