RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:85438

Enthesitis-related juvenile idiopathic arthritis

medium confidenceDisorder

Also known as: Enthesitis-related JIA · Juvenile ERA

Publications

199

63.1th percentile

Trials

0

Interventional, condition-specific

Researchers

1,168

Distinct authors in sample

Gene link

—

Readiness

3/6

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.”

3/6 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 characterisedPresent

    34 HPO annotations (e.g. Abnormal fascia morphology; Abnormal foot morphology; Abnormal metatarsal morphology) 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 trialPartial

    None under the specific name; 177 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)

34

Associated phenotypes · MONDO:0019437

  • Abnormal fascia morphology
  • Abnormal foot morphology
  • Abnormal metatarsal morphology
  • Abnormal shoulder morphology
  • Enthesitis

Showing 5 of 34 — 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

6

Drugs / clinical candidates · MONDO_0019437

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

199 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).

146 in the last 10 years · medium confidence · 63.1th 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 177 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th 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.

177 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

177

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

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (2)

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 Enthesitis-related juvenile idiopathic arthritis — 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.

"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"

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

Parent-category trials query:

"juvenile idiopathic arthritis"

Query health: ok — strategies attempted: phrase; with hits: phrase

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