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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

87.5th percentile

Trials

2

Interventional, condition-specific

Researchers

1,119

Distinct authors in sample

Gene link

—

Readiness

3/6

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.”

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

    1,665 matched papers (1,049 in last 10 years) Source

  3. Phenotype characterisedPresent

    5 HPO annotations (e.g. Respiratory insufficiency; Abnormal pleura morphology; Abnormality of the respiratory system) 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

    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)

5

Associated phenotypes · MONDO:0016580

  • Respiratory insufficiency
  • Abnormal pleura morphology
  • Abnormality of the respiratory system
  • Polyhydramnios
  • Premature birth

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

1,665 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).

1,049 in the last 10 years · medium confidence · 87.5th 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 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

medium confidence · 84.5th 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.

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

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 Congenital pulmonary airway malformation — 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.

"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