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ORPHA:747

Autoimmune pulmonary alveolar proteinosis

medium confidenceDisorder

Also known as: Autoimmune PAP · aPAP

Publications

693

82.4th percentile

Trials

11

Interventional, condition-specific

Researchers

1,149

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare primary interstitial lung disease characterized by the accumulation of lipids and proteins related to surfactant in the alveoli in association with the presence of antibodies against granulocyte-macrophage colony-stimulating factor (GM-CSF). The disease leads to a impairment of gas exchange and respiratory insufficiency.

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.

Additional Mondo synonyms (5)

APAP · autoimmune PAP · iPAP · idiopathic PAP · idiopathic pulmonary alveolar proteinosis

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

    693 matched papers (460 in last 10 years) Source

  3. Phenotype characterisedPresent

    36 HPO annotations (e.g. Abnormal circulating protein concentration; Hypoxemia; Increased circulating lactate dehydrogenase concentration) 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

    11 matched on ClinicalTrials.gov (2 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)

36

Associated phenotypes · MONDO:0012579

  • Abnormal circulating protein concentration
  • Hypoxemia
  • Increased circulating lactate dehydrogenase concentration
  • Hemoptysis
  • Autoimmune antibody positivity

Showing 5 of 36 — 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

4

Drugs / clinical candidates · MONDO_0012579

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

693

693 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.

693 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).

460 in the last 10 years · medium confidence · 82.4th percentile (publications denominator)

Phrase hits: 693 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,149

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
    Inoue Y18 papers · 2026

    Clinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Sakai City, Osaka, Japan. giichiyi@me.com.

    Papers in Europe PMC
  2. 02
    Arai T14 papers · 2025

    Clinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Sakai City, Osaka, Japan.

    Papers in Europe PMC
  3. 03
    McCarthy C10 papers · 2026

    Department of Respiratory Medicine, St Vincent's University Hospital, Dublin, Ireland; School of Medicine, University College Dublin, Dublin, Ireland. Electronic address: cormac.mccarthy@ucd.ie.

    Papers in Europe PMC
  4. 04
    Nakata K10 papers · 2026

    Niigata University Medical & Dental Hospital, Niigata, Japan. radical@med.niigata-u.ac.jp.

    Papers in Europe PMC
  5. 05
    Trapnell BC10 papers · 2026

    University of Cincinnati Cincinnati, Ohio.

    Papers in Europe PMC
  6. 06
    Hirose M9 papers · 2026

    Clinical Research Center, National Hospital Organization Kinki-Chuo Chest Medical Center, Sakai City, Osaka, Japan.

    Papers in Europe PMC
  7. 07
    Campo I8 papers · 2025

    Pneumology Unit, IRCCS San Matteo Hospital foundation, Pavia, Italy.

    Papers in Europe PMC
  8. 08
    Bonella F7 papers · 2026

    Department of Pulmonary Medicine, University Hospital Essen-Ruhrlandklinik, Essen, Germany; Center for Interstitial and Rare Lung Diseases, University Hospital Essen-Ruhrlandklinik, Essen, Germany.

    Papers in Europe PMC
  9. 09
    Carey B7 papers · 2026

    Cincinnati Children's Hospital Medical Center Cincinnati, Ohio.

    Papers in Europe PMC
  10. 10
    Tanaka T7 papers · 2024

    Niigata University Medical & Dental Hospital, Niigata, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

11

interventional trials for this specific condition

11 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 11 trials are registered for pulmonary alveolar proteinosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

11 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.8th percentile).

medium confidence · 92.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: pulmonary alveolar proteinosis

11

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

2 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.

None of the matched observational studies is currently listed as 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 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · 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 (6)

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 Autoimmune pulmonary alveolar proteinosis — 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.

"Autoimmune pulmonary alveolar proteinosis" OR "Autoimmune PAP" OR "idiopathic PAP" OR "idiopathic pulmonary alveolar proteinosis"

Run this search on Europe PMC

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

"Autoimmune pulmonary alveolar proteinosis" OR "Autoimmune PAP" OR "idiopathic PAP" OR "idiopathic pulmonary alveolar proteinosis"

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: 11 interventional · 2 observational · 1 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"pulmonary alveolar proteinosis"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: aPAP; iPAP

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:11:23.587Z