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ORPHA:1163

Aspergillosis

low confidenceDisorder

Publications

50,114

Trials

123

Interventional, condition-specific

Researchers

1,288

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare infectious disease caused by inhalation of the opportunistic fungus aspergillus that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar.

How rare: How common this is has not been clearly measured.

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.”

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

    50,114 matched papers (24,307 in last 10 years) Source

  3. Phenotype characterisedPresent

    73 HPO annotations (e.g. Abnormal fingernail morphology; Emphysema; Cough) 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

    123 matched on ClinicalTrials.gov (12 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:0005657

  • Abnormal fingernail morphology
  • Emphysema
  • Cough
  • Positive blood 1,3 beta glucan test
  • Decreased total neutrophil count

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)

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

17

Drugs / clinical candidates · MONDO_0005657

CTD chemicals (MyDisease.info)

17 associated chemicals · 6 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Amphotericin B · therapeutic
  • Anidulafungin · therapeutic
  • Caspofungin · therapeutic
  • Clotrimazole · therapeutic
  • enilconazole · therapeutic
  • Fluconazole · therapeutic
  • Hydrazones · therapeutic
  • ICI 195739 · therapeutic
  • Itraconazole · therapeutic
  • Ketoconazole · therapeutic
  • liposomal amphotericin B · therapeutic
  • posaconazole · therapeutic

Pathways: Phagosome; Tuberculosis; Innate Immune System; Immune System; CLEC7A (Dectin-1) signaling; C-type lectin receptors (CLRs)

MyDisease.info · MONDO:0005657

Literature

Is anyone studying this?

50,114

50,114 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.

50,114 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).

24,307 in the last 10 years · low confidence

Phrase hits: 50,114 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,288

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 Y9 papers · 2026

    Infection Prevention and Control Department, The First Affiliated Hospital of Nanyang Medical College, Nanyang, China.

    Papers in Europe PMC
  2. 02
    Zhang J7 papers · 2026

    Department of Critical Care Medicine, Weifang People's Hospital, Weifang, Shandong Province, China.

    Papers in Europe PMC
  3. 03
    Agarwal R5 papers · 2026

    Department of Pulmonary Medicine, PGIMER, Chandigarh, India.

    Papers in Europe PMC
  4. 04
    Chen Y5 papers · 2026

    Department of Pharmacy, Nanjing Drum Tower Hospital, School of Basic Medicine and Clinical Pharmacy, China Pharmaceutical University, Nanjing, Jiangsu, China.

    Papers in Europe PMC
  5. 05
    Wang Y5 papers · 2026

    Department of Rheumatology and Immunology, Beijing Shijitan Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  6. 06
    Zhang L5 papers · 2026

    Department of Pediatrics, Shanghai Jiahui International Hospital.

    Papers in Europe PMC
  7. 07
    Zhang X5 papers · 2026

    Guangzhou Medical University, KingMed School of Laboratory Medicine, Guangzhou, China.

    Papers in Europe PMC
  8. 08
    Cramer RA4 papers · 2026

    Department of Microbiology and Immunology, Geisel School of Medicine at Dartmouth, Hanover, New Hampshire, USA.

    Papers in Europe PMC
  9. 09
    Denning DW4 papers · 2026

    Manchester Fungal Infection Group, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.

    Papers in Europe PMC
  10. 10
    Lanternier F4 papers · 2026

    Infectious Diseases Department, Universitary Hospial Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris Cité University, Paris, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

123

interventional trials for this specific condition

123 interventional trials matched this specific condition name; 12 currently recruiting in our sample.

Data as of 11 September 2026

123 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.7th percentile).

low confidence · 98.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

103 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 42 · after dedupe 42 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 42 · 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 (42)

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 Aspergillosis — 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.

"Aspergillosis"

Run this search on Europe PMC

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

"Aspergillosis"

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: 123 interventional · 103 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (50114) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T16:32:41.911Z