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ORPHA:3287

Takayasu arteritis

medium confidenceDisorder

Publications

10,921

94.8th percentile

Trials

37

Interventional, condition-specific

Researchers

1,072

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare predominantly large-vessel vasculitis that is characterized by affected aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

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 (8)

Arteritis, Takayasu · Takayasu's arteritis · Takayasu's disease · aortic arch arteritis · aortic arch syndrome · cervical aortic arch · idiopathic aortitis · pharyngeal arch artery syndromic disease

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

    10,921 matched papers (5,290 in last 10 years) Source

  3. Phenotype characterisedPresent

    55 HPO annotations (e.g. Arteritis; Arthritis; Abnormal aortic valve 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 trialPresent

    37 matched on ClinicalTrials.gov (12 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)

55

Associated phenotypes · MONDO:0017991

  • Arteritis
  • Arthritis
  • Abnormal aortic valve morphology
  • Myocardial infarction
  • Anemia

Showing 5 of 55 — 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_0017991

CTD chemicals (MyDisease.info)

5 associated chemicals · 25 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Hydroxychloroquine · therapeutic
  • Leflunomide · therapeutic
  • 6-Ketoprostaglandin F1 alpha · marker/mechanism
  • Nitrogen Oxides · marker/mechanism
  • Thiobarbituric Acid Reactive Substances · marker/mechanism

Pathways: Arginine biosynthesis; Arginine and proline metabolism; Metabolic pathways; Calcium signaling pathway; HIF-1 signaling pathway; Peroxisome; Apelin signaling pathway; Salmonella infection

MyDisease.info · MONDO:0017991

Literature

Is anyone studying this?

10,921

10,921 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.

10,921 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).

5,290 in the last 10 years · medium confidence · 94.8th percentile (publications denominator)

Phrase hits: 10,921 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,072

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
    Jiang L8 papers · 2026

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

    Papers in Europe PMC
  2. 02
    Direskeneli H7 papers · 2026

    Division of Rheumatology, Department of Internal Medicine, Marmara University, School of Medicine, Istanbul, Türkiye.

    Papers in Europe PMC
  3. 03
    Pan L7 papers · 2026

    Department of Rheumatology and Immunology, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  4. 04
    Wang Y7 papers · 2026

    Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

    Papers in Europe PMC
  5. 05
    Alibaz-Oner F6 papers · 2026

    Division of Rheumatology, Department of Internal Medicine, Marmara University, School of Medicine, Istanbul, Türkiye.

    Papers in Europe PMC
  6. 06
    Ma L6 papers · 2026

    Department of Rheumatology and Immunology, Zhongshan Hospital, Fudan University, Shanghai, PR China.

    Papers in Europe PMC
  7. 07
    Du J5 papers · 2026

    Department of Rheumatology and Immunology, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  8. 08
    Li X5 papers · 2026

    Department of Cardiovascular Medicine, Capital Institute of Pediatrics-Peking University Teaching Hospital, 2nd Yabao Road, Chaoyang District, Beijing, 10020, China. lxhmaggie@pumc.edu.cn.

    Papers in Europe PMC
  9. 09
    Li Y5 papers · 2026

    Department of Pulmonary and Critical Care Medicine, Beijing Chaoyang Hospital Affiliated to Capital Medical University, Beijing, China.

    Papers in Europe PMC
  10. 10
    Misra DP5 papers · 2026

    Department of Clinical Immunology and Rheumatology, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, India.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

37

interventional trials for this specific condition

37 interventional trials matched this specific condition name; 12 currently recruiting in our sample. 60 trials are registered for arteritis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

37 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.5th percentile).

medium confidence · 96.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: arteritis

60

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

41 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 26 · after dedupe 26 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 26 · 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 (26)

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 Takayasu arteritis — 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.

"Takayasu arteritis" OR "Arteritis, Takayasu" OR "Takayasu's arteritis" OR "Takayasu's disease" OR "aortic arch arteritis" OR "aortic arch syndrome" OR "cervical aortic arch" OR "idiopathic aortitis" OR "pharyngeal arch artery syndromic disease"

Run this search on Europe PMC

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

"Takayasu arteritis" OR "Arteritis, Takayasu" OR "Takayasu's arteritis" OR "Takayasu's disease" OR "aortic arch arteritis" OR "aortic arch syndrome" OR "cervical aortic arch" OR "idiopathic aortitis" OR "pharyngeal arch artery syndromic disease"

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: 37 interventional · 41 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"arteritis"

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • "cervical aortic arch" also appears on ORPHA:99079

Ingested 2026-07-26T22:45:33.826Z