Mycobacterium avium complex disease

Summary

Mycobacterium avium complex disease (MONDO:0005866) is a disease with 1 GWAS associations across 1 studies and 12 clinical trials. Top therapeutic interventions include rifabutin, rifampin, and azithromycin. A subtype of primary bacterial infectious disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 1
• Clinical trials: 12

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Mycobacterium avium complex disease
Mondo ID	MONDO:0005866
EFO	EFO:0007386
MeSH	D015270
DOID	DOID:2755
NCIT	C36197
SNOMED CT	373436002
UMLS	C0026916
MedGen	6478
Is cancer (heuristic)	no

Also known as: disseminated infection with mycobacterium avium complex · DMAC · Mycobacterium avium Complex · Mycobacterium avium complex caused disease or disorder · Mycobacterium avium complex disease or disorder · Mycobacterium avium complex infectious disease · Mycobacterium avium infection

Data availability: 1 GWAS association (1 study).

Disease family

This is a subtype of primary bacterial infectious disease. 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 etiologic mechanism › disease of primarily extrinsic mechanism › infectious disease › bacterial infectious disease › primary bacterial infectious disease › Mycobacterium avium complex disease

Related subtypes (36): Buruli ulcer disease, sennetsu fever, salmonellosis, pinta disease, chancroid, gonorrhea, anthrax infection, leprosy, botulism, diphtheria, tetanus, bartonellosis, brucellosis, campylobacteriosis, glanders, granuloma inguinale, legionellosis, leptospirosis, listeriosis, ornithosis, rhinoscleroma, staphyloenterotoxemia, syphilis, cholera, ehrlichiosis, melioidosis, tuberculosis, tularemia, plague, Q fever, shigellosis, Lyme disease, relapsing fever, spirillary rat-bite fever, streptobacillary rat-bite fever, Borrelia miyamotoi disease

Genetics & variants

GWAS landscape

1 GWAS associations across 1 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
rs109592	2e-13	CHP2	?	0.54

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90026449	Namkoong H	2021	475	0	Genome-wide association study in patients with pulmonary Mycobacterium avium complex disease.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
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	0

Functional consequences

Consequence	Count
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs109592	16	23757389	C>T	0.05	intron_variant	CHP2	2e-13	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

1 approved drug — disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Status
Rifabutin	Approved (phase 4)

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

Drug	Highest phase
Azithromycin	Phase 3
Clarithromycin	Phase 3
Clofazimine	Phase 3
Bedaquiline	Phase 2
Ethambutol	Phase 2
INTERFERON GAMMA-1B	Phase 2
Minocycline	Phase 2
Rifampin	Phase 2
Ritonavir	Phase 2
Streptomycin	Phase 2

Clinical trials & evidence

Clinical trials

Clinical trials: 12.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	4
PHASE4	3
Not specified	3
PHASE2/PHASE3	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05192057	PHASE4	RECRUITING	Hypertonic Saline Inhalation for Mycobacterium Avium Complex Pulmonary Disease
NCT00598962	PHASE4	COMPLETED	Use of Azithromycin and Rifabutin Administered 3 Times Weekly for the Treatment of M. Avium Complex (MAC) Lung Disease
NCT00600769	PHASE4	COMPLETED	Clarithromycin for the Treatment of Infections Caused by Nontuberculous Mycobacteria (NTM)
NCT03672630	PHASE2/PHASE3	COMPLETED	Comparison of Two- Versus Three-antibiotic Therapy for Pulmonary Mycobacterium Avium Complex Disease
NCT02968212	PHASE2	ACTIVE_NOT_RECRUITING	Clofazimine in the Treatment of Pulmonary Mycobacterium Avium Complex (MAC)
NCT01719042	PHASE2	WITHDRAWN	Improving Tolerance of Treatment of Pulmonary MAC Infections
NCT04287049	PHASE2	COMPLETED	A Study of Standard Drugs for Mycobacterium Avium Complex
NCT04553406	PHASE2	TERMINATED	Safety, Tolerability, Pharmacokinetics and Efficacy of SPR720 for the Treatment of Patients With Mycobacterium Avium Complex (MAC) Pulmonary Disease
NCT01894776	PHASE1	COMPLETED	A Drug Interaction Study Investigating the Effect of Rifabutin on the Pharmacokinetics of Maraviroc
NCT05824988	Not specified	RECRUITING	Drug Exposure and Minimum Inhibitory Concentration in the Treatment of MAC Lung Disease
NCT07377864	Not specified	NOT_YET_RECRUITING	Clinical Characteristics and Immune Escape Mechanism of Nontuberculous Mycobacterial Lung Disease in South China
NCT04685720	Not specified	COMPLETED	A Pilot Study to Assess the Effect of Intermittent iNO on the Treatment of NTM Lung Infection in CF and Non-CF Patients

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
RIFABUTIN	4	2
RIFAMPIN	4	2
AZITHROMYCIN	4	1
CLARITHROMYCIN	4	1
CLOFAZIMINE	4	1
ETHAMBUTOL	4	1
MARAVIROC	4	1
ONDANSETRON HYDROCHLORIDE	4	1
CHEMBL4299381	0	1
CHEMBL2163486	0	1
CHEMBL361331	0	1
CHEMBL5413158	0	1
CHEMBL584744	0	1