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ORPHA:2444

Congenital pulmonary airway malformation

medium confidenceDisorder

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

Publications

1,665

93.2th percentile

Trials

2

Interventional, condition-specific

Researchers

1,119

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare respiratory characterized by a hamartomatous mass of non-functioning lung tissue of variable extent and with variable degrees of cystic or adenomatoid change. Clinical presentation, prognosis, and presence of associated abnormalities depend on the subtype of the lesion. Based on histopathological findings, five subtypes (types 0 to 4) can be differentiated.

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 (4)

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

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

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

    1,665 matched papers (1,049 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 trialPresent

    2 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)

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?

1,665

1,665 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=5449) is 41.

1,665 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).

1,049 in the last 10 years · medium confidence · 93.2th percentile (publications denominator)

Phrase hits: 1,665 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,119

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
    He Y6 papers · 2026

    Department of Thoracic Surgery, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, NO.9 Jinsui Road, Tianhe District, Guangzhou, 510000, China.

    Papers in Europe PMC
  2. 02
    Xu C6 papers · 2026

    Department of Pediatric Surgery, West China Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  3. 03
    Chen Q5 papers · 2026

    Department of Cardiothoracic Surgery, Fujian Children's Hospital (Fujian Branch of Shanghai Children's Medical Center), College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, People's Republic of China.

    Papers in Europe PMC
  4. 04
    Chen X5 papers · 2026

    Department of Cardiothoracic Surgery, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

    Papers in Europe PMC
  5. 05
    Wang Y5 papers · 2025

    Department of Pulmonology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, 310052, China.

    Papers in Europe PMC
  6. 06
    Feng J4 papers · 2026

    Department of Pediatric Surgery, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei Province, China. Electronic address: fengjiexiong@126.com.

    Papers in Europe PMC
  7. 07
    Li J4 papers · 2026

    Department of Cardiothoracic Surgery, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

    Papers in Europe PMC
  8. 08
    Li S4 papers · 2025

    Department of Pulmonology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, 310052, China.

    Papers in Europe PMC
  9. 09
    Xu Y4 papers · 2025

    Department of Anaesthesiology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510000, China.

    Papers in Europe PMC
  10. 10
    Yuan M4 papers · 2026

    Department of Pediatric Surgery, West China Hospital of Sichuan University, NO. 37 GUOXUE Lane, Chengdu, 610041, Sichuan Province, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

medium confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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" OR "Congenital cystic adenomatoid malformation of the lung" OR "Congenital cystic adenomatoid malformation of lung" OR "Congenital cystic adenomatous malformation of the lung" OR "Congenital cystic adenomatous malformation of lung" OR "Congenital cystic disease of the lung" OR "Congenital cystic disease of lung"

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" OR "Congenital cystic adenomatoid malformation of the lung" OR "Congenital cystic adenomatoid malformation of lung" OR "Congenital cystic adenomatous malformation of the lung" OR "Congenital cystic adenomatous malformation of lung" OR "Congenital cystic disease of the lung" OR "Congenital cystic disease of lung"

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

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CCAM; CPAM

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 2026-07-26T20:11:26.622Z