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ORPHA:221

Dermatomyositis

low confidenceDisorder

Also known as: Adult dermatomyositis

Publications

30,844

Trials

123

Interventional, condition-specific

Researchers

1,138

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare inflammatory (IIM) characterized by evocative skin lesions, muscle involvement with symmetrical proximal muscle weakness, and specific histological features. The clinical subtypes are defined by the presence of myositis-specific antibodies (anti-Mi2, anti-NXP2, anti-TIF1-γ, anti-MDA5, or anti-SAE antibodies) and are associated with specific clinical phenotypes and prognosis.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

DM · dermatomyositis · dermatopolymyositis

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

    30,844 matched papers (16,058 in last 10 years) Source

  3. Phenotype characterisedPresent

    123 HPO annotations (e.g. Poikiloderma; Weight loss; Vasculitis) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationPresent

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

  6. Interventional trialPresent

    123 matched on ClinicalTrials.gov (36 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)

123

Associated phenotypes · MONDO:0016367

  • Poikiloderma
  • Weight loss
  • Vasculitis
  • Arthralgia
  • Arrhythmia

Showing 5 of 123 — 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)

10

Designations · 5 with FDA orphan-indication approval

  • FDA lenabasumDermatomyositis · 2018-07-18 · Not FDA Approved for Orphan Indication
  • FDA sodium thiosulfateDermatomyositis · 2014-10-28 · Not FDA Approved for Orphan Indication
  • FDA siponimodDermatomyositis · 2014-07-10 · Not FDA Approved for Orphan Indication
  • FDA EculizumabDermatomyositis · 2000-09-21 · Not FDA Approved for Orphan Indication
  • FDA Immune globulin intravenous (human)POLYMYOSITIS/DERMATOMYOSITIS · 1992-10-13 · Not FDA Approved for Orphan Indication
  • EMA begelomabTreatment of dermatomyositis · 20/05/2021 · PositiveEMA designation
  • EMA Humanised IgG1K monoclonal antibody against interferon betaTreatment of dermatomyositis · 06/01/2021 · PositiveEMA designation
  • EMA human immunoglobulinTreatment of dermatomyositis · 20/10/2003 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

48

Drugs / clinical candidates · MONDO_0016367

CTD chemicals (MyDisease.info)

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

  • Adrenal Cortex Hormones · therapeutic
  • Anastrozole · therapeutic
  • Azathioprine · therapeutic
  • Hydroxychloroquine · therapeutic
  • Methotrexate · therapeutic
  • Methylprednisolone · therapeutic
  • Prednisolone · therapeutic
  • Prednisone · therapeutic
  • Tamoxifen · therapeutic
  • BCG Vaccine · marker/mechanism
  • Cyclophosphamide · marker/mechanism
  • Diclofenac · marker/mechanism

Pathways: Antifolate resistance; MAPK signaling pathway; Cytokine-cytokine receptor interaction; NF-kappa B signaling pathway; Sphingolipid signaling pathway; Endocytosis; Phagosome; mTOR signaling pathway

MyDisease.info · MONDO:0016367

Literature

Is anyone studying this?

30,844

30,844 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.

30,844 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).

16,058 in the last 10 years · low confidence

Phrase hits: 30,844 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,138

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
    Xu X6 papers · 2026

    Department of Rheumatology Immunology & Allergy, The Children's Hospital, National Clinical Research Center for Child Health, Zhejiang University School of Medicine, Binsheng Rd 3333, Binjiang District, Hangzhou, 310052, P.R. China. xuxuefeng@zju.edu.cn.

    Papers in Europe PMC
  2. 02
    Wang J5 papers · 2026

    Department of Neurology, The First Hospital of Shanxi Medical University, 030001 Taiyuan, Shanxi, China.

    Papers in Europe PMC
  3. 03
    Yang J5 papers · 2026

    Department of Dermatology, Zhongshan Hospital of Fudan University, Shanghai, China.

    Papers in Europe PMC
  4. 04
    Liu J4 papers · 2026

    Department of Oncology, Yuhuangding Hospital, Affiliated with Medical College of Qingdao University, Yantai, Shandong, China.

    Papers in Europe PMC
  5. 05
    Nigro A4 papers · 2026

    Department of Dermatology, Icahn School of Medicine at Mount Sinai, New York City, NY.

    Papers in Europe PMC
  6. 06
    Rider LG4 papers · 2026

    L.G. Rider, MD, Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Bethesda, Maryland, USA.

    Papers in Europe PMC
  7. 07
    Allenbach Y3 papers · 2026

    Centre National de Référence des Myopathies Inflammatoires, Département de Médecine Interne et Immunologie Clinique, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris.

    Papers in Europe PMC
  8. 08
    Benveniste O3 papers · 2026

    Centre National de Référence des Myopathies Inflammatoires, Département de Médecine Interne et Immunologie Clinique, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris.

    Papers in Europe PMC
  9. 09
    Chen Z3 papers · 2026

    Department of Rheumatology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  10. 10
    Christopher-Stine L3 papers · 2026

    Division of Rheumatology, Johns Hopkins University School of Medicine, Baltimore, Maryland.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

123

interventional trials for this specific condition

123 interventional trials matched this specific condition name; 36 currently recruiting in our sample.

Data as of 11 September 2026

123 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.7th percentile).

low confidence · 98.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

40 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 53 · after dedupe 52 · already on CT.gov 1 · kept 0 · parent 0 · uncertain 51 · 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 (51)

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 Dermatomyositis — 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.

("Dermatomyositis" OR "Adult dermatomyositis" OR "dermatopolymyositis")

Run this search on Europe PMC

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

"Dermatomyositis" OR "Adult dermatomyositis" OR "dermatopolymyositis"

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: 123 interventional · 40 observational · 1 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: DM

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 2026-07-26T12:57:27.807Z