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ORPHA:93672

Juvenile dermatomyositis

high confidenceDisorder

Also known as: Juvenile DM

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

4,333

91.5th percentile

Trials

22

Interventional, condition-specific

Researchers

1,157

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

An early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder with vasculopathy, characterized by proximal and symmetrical muscle weakness, evocative skin lesions, and systemic manifestations. Vasculopathy occurs in the skin, muscle (mainly in the perifascicular area), and sometimes in the intestinal tissue.

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 (6)

childhood dermatomyositis · inflammation of myoseptum · juvenile DM · juvenile dermatomyositis · myoseptum inflammation · myoseptumitis

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.”

3/6 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

    4,333 matched papers (2,583 in last 10 years) Source

  3. Phenotype characterisedPresent

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

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    22 matched on ClinicalTrials.gov (6 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)

45

Associated phenotypes · MONDO:0008054

  • Poikiloderma
  • Weight loss
  • Vasculitis
  • Arthralgia
  • Arrhythmia

Showing 5 of 45 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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

19

Drugs / clinical candidates · MONDO_0008054

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

4,333

4,333 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.

4,333 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).

2,583 in the last 10 years · high confidence · 91.5th percentile (publications denominator)

Phrase hits: 4,333 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,157

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
    Bader-Meunier B9 papers · 2026

    Department of Paediatric Hematology-Immunology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France; National Reference Centre for Inflammatory Diseases and Pediatric Rheumatology - Immunology, Hematology and Pediatric Rheumatology Unit, Université Paris-Cité, IMAGINE Institute, Necker Children's Hospital, Paris, France.

    Papers in Europe PMC
  2. 02
    Feldman BM9 papers · 2026

    B.M. Feldman, MD, MSc, Division of Rheumatology, The Hospital for Sick Children, and Child Health Evaluative Sciences, SickKids Research Institute, and Division of Endocrinology, The Hospital for Sick Children, and Institute of Health Policy, Management and Evaluation, Dalla Lana School of Public Health, University of Toronto, and Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada. brian.feldman@sickkids.ca.

    Papers in Europe PMC
  3. 03
    Rider LG9 papers · 2026

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

    Papers in Europe PMC
  4. 04
    Kim H8 papers · 2026

    Juvenile Myositis Pathogenesis and Therapeutics Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.

    Papers in Europe PMC
  5. 05
    Rosina S8 papers · 2026

    UOC Reumatologia e Malattie Autoinfiammatorie, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

    Papers in Europe PMC
  6. 06
    Shenoi S8 papers · 2026

    Seattle Children's Hospital and Research Center, University of Washington, Seattle, USA.

    Papers in Europe PMC
  7. 07
    Wang X8 papers · 2026

    Department of Rheumatology and Immunology, Children's Hospital Affiliated to Capital Institute of Pediatrics.

    Papers in Europe PMC
  8. 08
    Bodemer C6 papers · 2026

    Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France.

    Papers in Europe PMC
  9. 09
    Consolaro A6 papers · 2026

    Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genoa, Italy; UOC Reumatologia e Malattie Autoinfiammatorie, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

    Papers in Europe PMC
  10. 10
    Gitiaux C6 papers · 2026

    Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

22

interventional trials for this specific condition

22 interventional trials matched this specific condition name; 6 currently recruiting in our sample. 101 trials are registered for dermatomyositis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

22 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.2th percentile).

high confidence · 95.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: dermatomyositis

101

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

7 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 9 · after dedupe 9 · already on CT.gov 1 · kept 0 · parent 0 · uncertain 8 · 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 (8)

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 Juvenile 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.

"Juvenile dermatomyositis" OR "Juvenile DM" OR "childhood dermatomyositis" OR "inflammation of myoseptum" OR "inflammation of the myoseptum" OR "myoseptum inflammation" OR "myoseptumitis"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: [OBSOLETE] Juvenile dermatomyositis

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

"Juvenile dermatomyositis" OR "Juvenile DM" OR "childhood dermatomyositis" OR "inflammation of myoseptum" OR "inflammation of the myoseptum" OR "myoseptum inflammation" OR "myoseptumitis" OR "[OBSOLETE] Juvenile dermatomyositis"

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: 22 interventional · 7 observational · 1 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"dermatomyositis"

Query health: suspect — strategies attempted: phrase, mesh; 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

Ingested 2026-07-27T04:30:09.980Z