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ORPHA:703

Bullous pemphigoid

high confidenceDisorder

Publications

11,151

95.4th percentile

Trials

36

Interventional, condition-specific

Researchers

998

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare autoimmune bullous skin disease characterized by acquired, subepidermal tense bullae occurring on normal of inflamed skin and that is typically widespread (occurring in the flexor regions of the proximal arms and legs, in the armpits, groin and the abdomen) and often associated with pruritus. The evolution is typically chronic with spontaneous exacerbations and remission.

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 (1)

bullous pemphigoid

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.”

5/6 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

    11,151 matched papers (6,161 in last 10 years) Source

  3. Phenotype characterisedPresent

    15 HPO annotations (e.g. Urticaria; Weight loss; Psoriasiform dermatitis) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationPresent

    3 FDA · 3 EMA designations (3 FDA orphan-indication approvals) — e.g. nomacopan Source

  6. Interventional trialPresent

    36 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)

15

Associated phenotypes · MONDO:0019082

  • Urticaria
  • Weight loss
  • Psoriasiform dermatitis
  • Anti-BP180 antibody positivity
  • Diabetes mellitus

Showing 5 of 15 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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)

6

Designations · 3 with FDA orphan-indication approval

  • FDA nomacopanBullous pemphigoid · 2019-09-12 · Not FDA Approved for Orphan Indication
  • FDA dupilumabBullous pemphigoid · 2019-08-21 · Not FDA Approved for Orphan Indication
  • FDA bertilimumabBullous pemphigoid · 2018-08-17 · Not FDA Approved for Orphan Indication
  • EMA nomacopanTreatment of bullous pemphigoid · 26/06/2020 · PositiveEMA designation
  • EMA bertilimumabTreatment of bullous pemphigoid · 24/11/2018 · PositiveEMA designation
  • EMA dimethyl fumarateTreatment of bullous pemphigoid · 14/07/2016 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

29

Drugs / clinical candidates · MONDO_0019082

CTD chemicals (MyDisease.info)

12 associated chemicals · 45 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Azathioprine · therapeutic
  • Dapsone · therapeutic
  • Doxycycline · therapeutic
  • Immunosuppressive Agents · therapeutic
  • Methotrexate · therapeutic
  • Methylprednisolone · therapeutic
  • Mycophenolic Acid · therapeutic
  • Niacinamide · therapeutic
  • Prednisone · therapeutic
  • Tetracycline · therapeutic
  • Thalidomide · therapeutic
  • Mefenamic Acid · marker/mechanism

Pathways: Cytokine-cytokine receptor interaction; Chemokine signaling pathway; NF-kappa B signaling pathway; Phospholipase D signaling pathway; Toll-like receptor signaling pathway; NOD-like receptor signaling pathway; RIG-I-like receptor signaling pathway; IL-17 signaling pathway

MyDisease.info · MONDO:0019082

Literature

Is anyone studying this?

11,151

11,151 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.

11,151 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).

6,161 in the last 10 years · high confidence · 95.4th percentile (publications denominator)

Phrase hits: 11,151 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

998

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
    Wang Y10 papers · 2026

    Department of Dermatology, The National Center for the Integration of Traditional Chinese and Western Medicine, China-Japan Friendship Hospital, Beijing, China.

    Papers in Europe PMC
  2. 02
    Zhang J8 papers · 2026

    Department of Dermatology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  3. 03
    Antiga E6 papers · 2026

    Department of Health Sciences, Section of Dermatology, University of Florence, Florence, Italy.

    Papers in Europe PMC
  4. 04
    Li J6 papers · 2026

    Department of Dermatology & Venerology, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  5. 05
    Liu Y6 papers · 2026

    Department of Hepatology, Beijing Hospital of Traditional Chinese Medicine, Capital Medical University, Beijing, People's Republic of China.

    Papers in Europe PMC
  6. 06
    Maglie R6 papers · 2026

    Department of Health Sciences, Section of Dermatology, University of Florence, Florence, Italy.

    Papers in Europe PMC
  7. 07
    Li L5 papers · 2026

    The First School of Clinical Medicine, Southern Medical University, Guangzhou, Guangdong, China.

    Papers in Europe PMC
  8. 08
    Li W5 papers · 2026

    Department of Dermatology & Venerology, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  9. 09
    Amber KT4 papers · 2026

    Department of Dermatology, Rush University Medical Center, Chicago, Illinois, USA.

    Papers in Europe PMC
  10. 10
    Baffa ME4 papers · 2026

    Department of Health Sciences, Section of Dermatology, University of Florence, Florence, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

36

interventional trials for this specific condition

36 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 11 September 2026

36 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.4th percentile).

high confidence · 96.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

20 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 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · 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 (9)

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 Bullous pemphigoid — 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.

"Bullous pemphigoid"

Run this search on Europe PMC

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

"Bullous pemphigoid"

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: 36 interventional · 20 observational · 1 expanded access. Only interventional studies enter the trial headline.

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 2026-07-26T14:57:40.486Z