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ORPHA:280832

Congenital pulmonary airway malformation type 1

high confidenceSubtype of disorder

Also known as: CCAM type 1 · CPAM type 1 · Congenital cystic adenomatoid malformation of the lung type 1 · Congenital cystic adenomatous malformation of the lung type 1 · Congenital cystic disease of the lung type 1

Publications

87

59.8th percentile

Trials

0

Interventional, condition-specific

Researchers

451

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare subtype of pulmonary airway characterized by a multicystic mass of non-functioning lung tissue with one or more cysts of 2 to 10 cm in diameter, which may be surrounded by smaller cysts. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. Small lesions may remain asymptomatic, while most cases present with respiratory distress in the period or in infancy, or with recurrent respiratory infections later in life. Pulmonary hypoplasia and severe fetal hydrops are rare complications. The condition is associated with an increased risk of pulmonary malignancy, such as bronchoalveolar carcinoma.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

congenital cystic adenomatoid malformation of the lung type 1 · congenital cystic adenomatous malformation of the lung type 1 · congenital cystic disease of the lung type 1

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.”

2/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    87 matched papers (69 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 trialPartial

    None under the specific name; 2 for broader category congenital pulmonary airway malformation

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)

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?

87

87 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

87 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).

69 in the last 10 years · high confidence · 59.8th percentile (publications denominator)

Phrase hits: 87 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

451

Distinct author names in 87 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Nicholson AG4 papers · 2024

    Department of Histopathology, Royal Brompton and Harefield NHS Foundation Trust, London, UK.

    Papers in Europe PMC
  2. 02
    Schnater JM4 papers · 2026

    Department of Paediatric Surgery, Erasmus Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands.

    Papers in Europe PMC
  3. 03
    Dehner LP3 papers · 2026

    Lauren V. Ackerman Laboratory of Surgical Pathology, St. Louis Children's Hospital, Washington University Medical Center, St. Louis, MO, USA.

    Papers in Europe PMC
  4. 04
    Schultz KAP3 papers · 2026

    International Pleuropulmonary Blastoma/DICER1Registry, Cancer and Blood Disorders, Children's Minnesota, Minneapolis, MN, USA.

    Papers in Europe PMC
  5. 05
    von der Thüsen JH3 papers · 2023

    Department of Pathology, Erasmus Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands.

    Papers in Europe PMC
  6. 06
    Wijnen RMH3 papers · 2026

    Department of Pediatric Surgery, Erasmus University Medical Center - Sophia Children's Hospital, Rotterdam, 3015 GD, the Netherlands.

    Papers in Europe PMC
  7. 07
    Ade-Ajayi N2 papers · 2025

    Departments of Paediatric Surgery, Kings College Hospital, London, UK.

    Papers in Europe PMC
  8. 08
    Alshammari A2 papers · 2024

    Department of Pediatrics, Prince Sultan Military Medical City, Saudi Arabia.

    Papers in Europe PMC
  9. 09
    Ciet P2 papers · 2023

    Department of Paediatric Pulmonology and Allergology, Erasmus MC - Sophia Children's Hospital, Rotterdam, The Netherlands.

    Papers in Europe PMC
  10. 10
    Davenport M2 papers · 2025

    Departments of Paediatric Surgery, Kings College Hospital, London, UK. Electronic address: markdav2@ntlworld.com.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 2 trials are registered for congenital pulmonary airway malformation, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

2 interventional trials matched congenital pulmonary airway malformation, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: congenital pulmonary airway malformation

2

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

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.

"Congenital pulmonary airway malformation type 1" OR "CCAM type 1" OR "CPAM type 1" OR "Congenital cystic adenomatoid malformation of the lung type 1" OR "Congenital cystic adenomatoid malformation of lung type 1" OR "Congenital cystic adenomatous malformation of the lung type 1" OR "Congenital cystic adenomatous malformation of lung type 1" OR "Congenital cystic disease of the lung type 1" OR "Congenital cystic disease of lung type 1"

Run this search on Europe PMC

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

"Congenital pulmonary airway malformation type 1" OR "CCAM type 1" OR "CPAM type 1" OR "Congenital cystic adenomatoid malformation of the lung type 1" OR "Congenital cystic adenomatoid malformation of lung type 1" OR "Congenital cystic adenomatous malformation of the lung type 1" OR "Congenital cystic adenomatous malformation of lung type 1" OR "Congenital cystic disease of the lung type 1" OR "Congenital cystic disease of lung type 1"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"congenital pulmonary airway malformation"

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 2026-07-27T11:58:09.305Z