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ORPHA:85438

Enthesitis-related juvenile idiopathic arthritis

medium confidenceDisorder

Also known as: Enthesitis-related JIA · Juvenile ERA

Publications

199

73.4th percentile

Trials

0

Interventional, condition-specific

Researchers

1,168

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare inflammatory rheumatic disease in a child younger than 16 years characterized by arthritis and/or enthesitis and/or acute anterior uveitis. The most commonly affected joints at diagnosis are the knees, ankles, and hips. The small joints of the feet and toes are also often involved.

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)

ERA · enthesitis-related JIA · era

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.”

2/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    199 matched papers (146 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 176 for broader category juvenile idiopathic arthritis

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?

199

199 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

199 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).

146 in the last 10 years · medium confidence · 73.4th percentile (publications denominator)

Phrase hits: 199 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,168

Distinct author names in 199 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.

  1. 01
    Thomson W12 papers · 2021

    Arthritis Research UK Centre for Genetics and Genomics, Manchester Academic Health Centre, University of Manchester, Manchester, M13 9PT, United Kingdom; National Institute for Health Research Manchester Musculoskeletal Biomedical Research Unit, Central Manchester National Health Service Foundation Trust, Manchester Academic Health Centre, University of Manchester, Manchester, M13 9PT, United Kingdom;

    Papers in Europe PMC
  2. 02
    Prahalad S8 papers · 2024

    Department of Pediatrics, Emory University School of Medicine, Atlanta, GA 30322; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322;

    Papers in Europe PMC
  3. 03
    Ruperto N8 papers · 2026

    Pediatria II e Reumatologia, Istituto G Gaslini Genoa, University of Genoa Genoa, Italy.

    Papers in Europe PMC
  4. 04
    Hyrich KL7 papers · 2024

    Arthritis Research UK Centre for Epidemiology, Centre for Musculoskeletal Research, Institute for Inflammation and Repair, Faculty of Medical and Human Sciences, University of Manchester, Manchester, NIHR Manchester Musculoskeletal Biomedical Research Unit, Central Manchester NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK kimme.hyrich@manchester.ac.uk.

    Papers in Europe PMC
  5. 05
    Quartier P7 papers · 2026

    Necker-Enfants Malades University Hospital, Assistance Publique-Hopitaux de Paris, Paris, France.

    Papers in Europe PMC
  6. 06
    Brunner HI6 papers · 2025

    Division of Rheumatology, Cincinnati Children's Hospital Medical Center & Cincinnati Children's Research Foundation, MLC 4010, Cincinnati, OH, 45229, USA. Hermine.brunner@cchmc.org.

    Papers in Europe PMC
  7. 07
    Hinks A6 papers · 2015

    Arthritis Research UK Centre for Genetics and Genomics, Manchester Academic Health Centre, University of Manchester, Manchester, M13 9PT, United Kingdom;

    Papers in Europe PMC
  8. 08
    Wedderburn LR6 papers · 2024

    Institute of Child Health, University College London, London, WC1N 1EH, United Kingdom; Center of Paediatric and Adolescent Rheumatology, University College London, London, WC1N 1EH, United Kingdom;

    Papers in Europe PMC
  9. 09
    Bohnsack JF5 papers · 2024

    Department of Pediatrics, University of Utah, Salt Lake City, UT 84113;

    Papers in Europe PMC
  10. 10
    Martini A5 papers · 2024

    Department of Pediatrics, University of Genova, 16145 Genoa, Italy; Pediatrics II Unit, G. Gaslini Institute, 16147 Genoa, 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 176 trials are registered for juvenile idiopathic arthritis, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

medium 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.

176 interventional trials matched juvenile idiopathic arthritis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: juvenile idiopathic arthritis

176

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

1 observational study matches 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

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 2026-07-26

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.

"Enthesitis-related juvenile idiopathic arthritis" OR "Enthesitis-related JIA" OR "Juvenile ERA"

Run this search on Europe PMC

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

"Enthesitis-related juvenile idiopathic arthritis" OR "Enthesitis-related JIA" OR "Juvenile ERA" OR "idiopathic disease"

Recall-expansion terms: idiopathic disease

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"juvenile idiopathic arthritis"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: ERA

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

Ingested 2026-07-27T03:02:11.546Z