ORPHA:280854
Congenital pulmonary airway malformation type 4
Also known as: CPAM type 4 · Congenital cystic adenomatoid malformation of the lung type 4 · Congenital cystic adenomatous malformation of the lung type 4
Publications
30
41.8th percentile
Trials
0
Interventional, condition-specific
Researchers
187
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 peripheral, large, thin-walled, often multiloculated cysts, which may be 8 cm in diameter. The lesions have intracystic communications, can be connected to the tracheobronchial tree, and are usually unilateral, involving a single lobe. Patients present with respiratory distress or respiratory infections in the period or in infancy. The condition is often associated with tension pneumothorax, signs of mediastinal shift, and malignant transformation to pleuropulmonary blastoma type 1.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017252
- UMLS:C5437760
Additional Mondo synonyms (2)
congenital cystic adenomatoid malformation of the lung type 4 · congenital cystic adenomatous malformation of the lung type 4
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
30 matched papers (27 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
30
30 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.
30 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).
27 in the last 10 years · high confidence · 41.8th percentile (publications denominator)
Phrase hits: 30 · MeSH hits: 0
Who's working on it?
187
Distinct author names in 30 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.
- 01Dehner 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 - 02Schnater JM3 papers · 2023
Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, 3015 GD Rotterdam, The Netherlands.
Papers in Europe PMC - 03Schultz KAP3 papers · 2026
International Pleuropulmonary Blastoma/DICER1Registry, Cancer and Blood Disorders, Children's Minnesota, Minneapolis, MN, USA.
Papers in Europe PMC - 04Wijnen RMH3 papers · 2023
Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, 3015 GD Rotterdam, The Netherlands.
Papers in Europe PMC - 05Bentur L2 papers · 2023
Pediatric Pulmonary Institute and CF Center, Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.
Papers in Europe PMC - 06Brosens E2 papers · 2023
Clinical Genetics, Erasmus MC Sophia Children's Hospital, Rotterdam, Zuid-Holland, Netherlands.
Papers in Europe PMC - 07Ciet P2 papers · 2025
Radiology and Nuclear Medicine, Erasmus MC Sophia Children's Hospital, Rotterdam, Zuid-Holland, Netherlands.
Papers in Europe PMC - 08Faccin M2 papers · 2025
Michale E. Keeling Center for Comparative Medicine and Research, Department of Comparative Medicine, The University of Texas MD Anderson Cancer Center, 650 Cool Water Drive, Bastrop, TX, 78602, USA. Electronic address: mfaccin@mdanderson.org.
Papers in Europe PMC - 09Gur M2 papers · 2023
Pediatric Pulmonary Institute and CF Center, Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.
Papers in Europe PMC - 10Hermelijn SM2 papers · 2023
Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, 3015 GD Rotterdam, The Netherlands.
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
- NCT05701514·RECRUITING·The COllaborative Neonatal Network for the First CPAM Trial
Conditions: Congenital Pulmonary Airway Malformation·Matched via name phrase
- NCT06302985·RECRUITING·Atomized Inhalation ICG for Treatment of Congenital Lung Malformations
Conditions: Pulmonary Sequestration · Congenital Pulmonary Airway Malformation · Indocyanine Green · Thoracoscopic Surgery·Matched via name phrase
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 2026-07-26This 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 4" OR "CPAM type 4" OR "Congenital cystic adenomatoid malformation of the lung type 4" OR "Congenital cystic adenomatoid malformation of lung type 4" OR "Congenital cystic adenomatous malformation of the lung type 4" OR "Congenital cystic adenomatous malformation of lung type 4"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital pulmonary airway malformation type 4" OR "CPAM type 4" OR "Congenital cystic adenomatoid malformation of the lung type 4" OR "Congenital cystic adenomatoid malformation of lung type 4" OR "Congenital cystic adenomatous malformation of the lung type 4" OR "Congenital cystic adenomatous malformation of lung type 4"
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 2026-07-27T11:58:37.079Z