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ORPHA:767

Polyarteritis nodosa

medium confidenceDisorder

Also known as: Küssmaul-Maier disease · PAN · Periarteritis nodosa

Publications

15,651

97.1th percentile

Trials

9

Interventional, condition-specific

Researchers

1,078

Distinct authors in sample

Gene link

ADA2

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, clinically heterogeneous, systemic disease characterized by necrotizing inflammatory lesions affecting medium-sized blood vessels. It most commonly affects skin, joints, peripheral nerves and the gastrointestinal tract.

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)

classic polyarteritis nodosa · classical polyarteritis nodosa · panarteritis nodosa · periarteritis nodosa · polyarteritis nodosa

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 identifiedPresent

    Moderate — ADA2

  2. LiteraturePresent

    15,651 matched papers (4,240 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 trialPresent

    9 matched on ClinicalTrials.gov (1 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?

Probably — there is moderate evidence for ADA2.

GenCC classification: Moderate.

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?

15,651

15,651 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=5449) is 41.

15,651 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).

4,240 in the last 10 years · medium confidence · 97.1th percentile (publications denominator)

Phrase hits: 15,651 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,078

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
    Li C4 papers · 2025

    Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts.

    Papers in Europe PMC
  2. 02
    Mekinian A4 papers · 2026

    Service de médecine interne, hôpital Saint-Antoine, AP-HP, Sorbonne université, 184, rue du Faubourg-Saint-Antoine, 75012 Paris, France. Electronic address: arsene.mekinian@aphp.fr.

    Papers in Europe PMC
  3. 03
    Fain O3 papers · 2025

    Department of Internal Medicine, Saint-Antoine Hospital, APHP, Sorbonne University, Paris, France.

    Papers in Europe PMC
  4. 04
    Sözeri B3 papers · 2026

    Department of Pediatric Rheumatology, Umraniye Training and Research Hospital, University of Health Sciences, İstanbul, Türkiye.

    Papers in Europe PMC
  5. 05
    Tanaka Y3 papers · 2026

    Department of Gastroenterology, Meitetsu Hospital, Nagoya, Japan.

    Papers in Europe PMC
  6. 06
    Amagai M2 papers · 2024

    Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  7. 07
    Audemard-Verger A2 papers · 2026

    Department of Internal Medicine, Tours University Hospital, Tours, France.

    Papers in Europe PMC
  8. 08
    Baillet C2 papers · 2026

    Centre Hospitalier Universitaire de Lille, Nuclear Medicine Department, Lille University Hospital, Lille, France.

    Papers in Europe PMC
  9. 09
    Blanco R2 papers · 2025

    Rheumatology Division, University Hospital Marqués de Valdecilla, IDIVAL, Immunopathology Group, Santander, Spain. rblancovela@gmail.com.

    Papers in Europe PMC
  10. 10
    Castañeda S2 papers · 2025

    Rheumatology Division, University Hospital La Princesa, IIS-Princesa, Madrid, Spain.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

9

interventional trials for this specific condition

9 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

9 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.2th percentile).

medium confidence · 91.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

15 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

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.

"Polyarteritis nodosa" OR "Küssmaul-Maier disease" OR "Periarteritis nodosa" OR "classic polyarteritis nodosa" OR "classical polyarteritis nodosa" OR "panarteritis nodosa"

Run this search on Europe PMC

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

"Polyarteritis nodosa" OR "Küssmaul-Maier disease" OR "Periarteritis nodosa" OR "classic polyarteritis nodosa" OR "classical polyarteritis nodosa" OR "panarteritis nodosa" OR "ADA2"

Recall-expansion terms: ADA2

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: 9 interventional · 15 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PAN

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 2026-07-26T15:17:12.669Z