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ORPHA:247353

Generalized pustular psoriasis

medium confidenceDisorder

Also known as: GPP

Publications

2,309

89.9th percentile

Trials

23

Interventional, condition-specific

Researchers

994

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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

    2,309 matched papers (1,716 in last 10 years) Source

  3. Phenotype characterisedPresent

    43 HPO annotations (e.g. Erythema; Increased total leukocyte count; Psoriasiform dermatitis) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. imsidolimab Source

  6. Interventional trialPresent

    23 matched on ClinicalTrials.gov (3 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)

43

Associated phenotypes · MONDO:0100491

  • Erythema
  • Increased total leukocyte count
  • Psoriasiform dermatitis
  • Polyarticular arthritis
  • Furrowed tongue

Showing 5 of 43 — 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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA imsidolimabGENERALIZED PUSTULAR PSORIASIS · 2020-07-07 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

11

Drugs / clinical candidates · MONDO_0100491

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,309

2,309 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,309 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).

1,716 in the last 10 years · medium confidence · 89.9th percentile (publications denominator)

Phrase hits: 2,309 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

994

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 Z9 papers · 2026

    Department of Dermatology, The University of Hong Kong-Shenzhen Hospital (HKU-SZH), Shenzhen, Guangdong 518053, China.

    Papers in Europe PMC
  2. 02
    Sugiura K9 papers · 2026

    Fujita Health University Hospital, Toyoake, Japan.

    Papers in Europe PMC
  3. 03
    Tada Y8 papers · 2026

    Department of Dermatology, Teikyo University School of Medicine, 2-11-1 Kaga, Itabashi-Ku, Tokyo, Japan. ytada-tky@umin.ac.jp.

    Papers in Europe PMC
  4. 04
    Li Y7 papers · 2025

    Department of Dermatology, Chongqing Hospital of Traditional Chinese Medicine, Chongqing, P.R. China.

    Papers in Europe PMC
  5. 05
    Morita A7 papers · 2026

    Nagoya City University, Nagoya, Japan.

    Papers in Europe PMC
  6. 06
    Wang J7 papers · 2026

    State Key Laboratory of Genetic Engineering, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China.

    Papers in Europe PMC
  7. 07
    Yang B7 papers · 2026

    Hospital for Skin Diseases, Shandong First Medical University, Shandong, China.

    Papers in Europe PMC
  8. 08
    Gottlieb AB6 papers · 2026

    Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address: alicegottliebderm@gmail.com.

    Papers in Europe PMC
  9. 09
    Imafuku S6 papers · 2026

    Fukuoka University Hospital, Fukuoka, Japan.

    Papers in Europe PMC
  10. 10
    Lakshminarasimhan B5 papers · 2026

    Boehringer Ingelheim International GmbH, Ingelheim, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

23

interventional trials for this specific condition

23 interventional trials matched this specific condition name; 3 currently recruiting in our sample. 8 trials are registered for pustular psoriasis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

23 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.3th percentile).

medium confidence · 95.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: pustular psoriasis

8

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.

Observational and natural-history studies

7 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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · 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 (4)

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 Generalized pustular psoriasis — 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.

"Generalized pustular psoriasis"

Run this search on Europe PMC

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

"Generalized pustular psoriasis"

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: 23 interventional · 7 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"pustular psoriasis"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: GPP

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 2026-07-27T10:31:35.060Z