Pleural empyema

Summary

Pleural empyema (MONDO:0018667) is a disease with 2 GWAS associations across 9 studies and 9 clinical trials. Top therapeutic interventions include dornase alfa and urokinase. A subtype of pleural disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-5 / 10 000 (Europe) [Orphanet-validated]
• GWAS associations: 2
• Clinical trials: 9

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-5 / 10 000	13	Europe	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	pleural empyema
Mondo ID	MONDO:0018667
EFO	EFO:0009680
MeSH	D016724
Orphanet	449266
DOID	DOID:3798
SNOMED CT	405950009
UMLS	C0014013
MedGen	4928
GARD	0021879
Is cancer (heuristic)	no

Also known as: pleural empyema · pleural empyema (disease)

Data availability: 2 GWAS associations (9 studies) · 1 HPO phenotype.

Disease family

This is a subtype of pleural disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › respiratory system disorder › lower respiratory tract disorder › pleural disorder › pleural empyema

Related subtypes (4): pleurisy, pneumothorax, congenital chylothorax, pleural neoplasm

Subtypes (1): tuberculous empyema

Genetics & variants

GWAS landscape

2 GWAS associations across 9 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs113993960	3e-12	CFTR	?	1.97
chr5:14821889	3e-07		?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90478161	Verma A	2024	4,202	442,977	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436234	Zhou W	2018	1,174	397,411	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90478160	Verma A	2024	880	120,270	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481075	Verma A	2024	880	120,270	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473727	UK Biobank Whole-Genome Sequencing Consortium	2025	795	457,645	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90652047	Liu TY	2025	794	224,406	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90044082	Jiang L	2021	637	455,711	A generalized linear mixed model association tool for biobank-scale data.
GCST90482089	Verma A	2024	285	59,321	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90837490	Koyama S	2025	0	0	Genetics and context for precision health in Greater Boston.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	1

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
inframe_insertion	1
unknown	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs113993960	7	117559591	ATCT>A,ATCTTCT	0.05	inframe_insertion	CFTR	3e-12	Tier 1: coding
chr5:14821889							3e-07	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated or in trials for this disease

No drug has an approved disease-direct ChEMBL indication for this disease.

3 drugs in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

Drug	Highest phase
Alteplase	Phase 3
Dornase Alfa	Phase 3
Urokinase	Phase 2

Clinical trials & evidence

Clinical trials

Clinical trials: 9.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	5
PHASE3	2
PHASE4	1
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05077111	PHASE4	UNKNOWN	A Comparative Study Between Regional Anesthesia in Thoracoscopes and the Conventional General Anesthesia
NCT00234208	PHASE3	TERMINATED	Early Medical Thoracoscopy Versus Simple Chest Tube Drainage in Complicated Parapneumonic Effusion and Pleural Empyema
NCT00502632	PHASE2/PHASE3	UNKNOWN	Dornase Alfa and Urokinase for Kids With Pleural Empyema
NCT01717742	PHASE3	COMPLETED	Intrapleural DNase and Tissue Plasminogen Activator in Pediatric Empyema (DTPA Trial)
NCT04095676	Not specified	RECRUITING	VATS Surgery Compared to Drainage in the Treatment of Pleural Empyema
NCT07337993	Not specified	RECRUITING	Fungal Empyema Thoracis
NCT01011881	Not specified	COMPLETED	Procalcitonin in Pleural Pleuritis
NCT06513689	Not specified	COMPLETED	The Oxford Pleural Infection Endotyping Study
NCT07167823	Not specified	COMPLETED	The Role of Decortication in Complex Empyema Cases: Multidrug Resistance and Tuberculosis at the Forefront

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DORNASE ALFA	4	1
UROKINASE	4	1