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ORPHA:397

Giant cell arteritis

high confidenceDisorder

Also known as: Horton disease · Temporal arteritis

Publications

19,144

96.8th percentile

Trials

61

Interventional, condition-specific

Researchers

1,155

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare large vessel vasculitis (LVV) characterized by vasculitis predominantly involving the arteries originating from the aortic arch and the extracranial branches of the carotid arteries. Clinical manifestations are variable, the predominant cranial is characterized by headache, jaw claudication, scalp tenderness and visual symptoms and the predominant LVV type by constitutional symptoms, polymyalgia rheumatica and occasionally limb ischemia. Overlaps between these two phenotypes are common.

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 (5)

Giant Cell Arteritis · giant cell arteritis · inflammation of temporal artery · temporal arteritis · temporal artery inflammation

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.”

4/6 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

    19,144 matched papers (9,351 in last 10 years) Source

  3. Phenotype characterisedPresent

    73 HPO annotations (e.g. Headache; Vasculitis; Cerebral ischemia) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    3 FDA designations (3 FDA orphan-indication approvals) — e.g. mavrilimumab Source

  6. Interventional trialPresent

    61 matched on ClinicalTrials.gov (14 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)

73

Associated phenotypes · MONDO:0008538

  • Headache
  • Vasculitis
  • Cerebral ischemia
  • Impaired mastication
  • Hyperfibrinogenemia

Showing 5 of 73 — 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)

3

Designations · 3 with FDA orphan-indication approval

  • FDA mavrilimumabGiant Cell Arteritis · 2020-09-14 · Not FDA Approved for Orphan Indication
  • FDA AbataceptGiant Cell Arteritis · 2017-02-22 · Not FDA Approved for Orphan Indication
  • FDA infliximabGiant Cell Arteritis · 2003-05-06 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

29

Drugs / clinical candidates · MONDO_0008538

CTD chemicals (MyDisease.info)

8 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Adrenal Cortex Hormones · therapeutic
  • Azathioprine · therapeutic
  • Ergotamine · therapeutic
  • Methylprednisolone · therapeutic
  • Prednisolone · therapeutic
  • Prednisone · therapeutic
  • Contraceptives, Oral · marker/mechanism
  • Enalapril · marker/mechanism

MyDisease.info · MONDO:0008538

Literature

Is anyone studying this?

19,144

19,144 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.

19,144 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).

9,351 in the last 10 years · high confidence · 96.8th percentile (publications denominator)

Phrase hits: 19,144 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,155

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
    Dejaco C6 papers · 2026

    Department of Rheumatology, Hospital of Bruneck (ASAA-SABES), Teaching Hospital of the Paracelsius Medical University, Brunico, Italy; Department of Rheumatology, Medical University of Graz, Graz, Austria.

    Papers in Europe PMC
  2. 02
    Makhzoum JP6 papers · 2026

    Division of Internal Medicine, Vasculitis Clinic, Hopital Sacré-Coeur de Montréal, University of Montréal, Montréal, Quebec, Canada.

    Papers in Europe PMC
  3. 03
    Castañeda S5 papers · 2026

    Hospital de la Princesa, IIS-Princesa, Department of Rheumatology, Madrid, Spain.

    Papers in Europe PMC
  4. 04
    Salvarani C5 papers · 2026

    Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy; Università di Modena e Reggio Emilia, Reggio Emilia, Italy.

    Papers in Europe PMC
  5. 05
    Samson M5 papers · 2026

    Department of Internal Medicine and Clinical Immunology, Referral Center for Rare Systemic Autoimmune and Autoinflammatory Diseases, Dijon-Bourgogne University Hospital, University EPE Bourgogne Europe, Dijon, France.

    Papers in Europe PMC
  6. 06
    Schmidt WA5 papers · 2026

    Department of Rheumatology and Clinical Immunology Berlin-Buch, Immanuel Krankenhaus Berlin, Berlin, Germany; Waldfriede Hospital, Rheumatology, Berlin, Germany.

    Papers in Europe PMC
  7. 07
    Bley TA4 papers · 2026

    Department of Diagnostic and Interventional Radiology, University Hospital Würzburg, Würzburg, Germany.

    Papers in Europe PMC
  8. 08
    Cid MC4 papers · 2026

    Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clinic of Barcelona, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.

    Papers in Europe PMC
  9. 09
    Espitia O4 papers · 2026

    Department of Internal and Vascular Medicine, Nantes Université, CHU Nantes, Nantes, France Olivier.espitia@chu-nantes.fr.

    Papers in Europe PMC
  10. 10
    Guggenberger KV4 papers · 2026

    Department of Diagnostic and Interventional Neuroradiology, University Hospital Würzburg, Würzburg, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

61

interventional trials for this specific condition

61 interventional trials matched this specific condition name; 14 currently recruiting in our sample. 36 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

61 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.6th percentile).

high confidence · 97.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: arteritis

36

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

75 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 63 · after dedupe 63 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 63 · 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 (63)

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 Giant cell 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.

"Giant cell arteritis" OR "Horton disease" OR "Temporal arteritis" OR "inflammation of temporal artery" OR "inflammation of the temporal artery" OR "temporal artery inflammation"

Run this search on Europe PMC

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

"Giant cell arteritis" OR "Horton disease" OR "Temporal arteritis" OR "inflammation of temporal artery" OR "inflammation of the temporal artery" OR "temporal artery inflammation"

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: 61 interventional · 75 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
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:42:51.558Z