Botulism

Summary

Botulism (MONDO:0005498) is a disease and 16 clinical trials. Top therapeutic interventions include amifampridine and botulism antitoxin. 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

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 18
• Clinical trials: 16

Clinical features

Epidemiology

Prevalence records

25 prevalence record(s), Orphanet, top 20 (validated / broadest geography first):

Type	Class	Value	Geography	Validation
Point prevalence	<1 / 1 000 000		Worldwide	Validated
Annual incidence	<1 / 1 000 000	0.022	Europe	Validated
Annual incidence	1-9 / 1 000 000	0.255	France	Validated
Annual incidence	1-9 / 1 000 000	0.35	United States	Validated
Annual incidence	<1 / 1 000 000	0.026	Austria	Validated
Annual incidence	<1 / 1 000 000	0.006	Belgium	Validated
Annual incidence	<1 / 1 000 000	0.028	Bulgaria	Validated
Annual incidence	<1 / 1 000 000	0.04	Croatia	Validated
Annual incidence	<1 / 1 000 000	0.01	Czech Republic	Validated
Annual incidence	<1 / 1 000 000	0.024	Denmark	Validated
Annual incidence	<1 / 1 000 000	0.012	Finland	Validated
Annual incidence	<1 / 1 000 000	0.006	Germany	Validated
Annual incidence	<1 / 1 000 000	0.052	Hungary	Validated
Annual incidence	<1 / 1 000 000	0.012	Ireland	Validated
Annual incidence	<1 / 1 000 000	0.052	Italy	Validated
Annual incidence	<1 / 1 000 000	0.086	Lithuania	Validated
Annual incidence	<1 / 1 000 000	0.002	Netherlands	Validated
Annual incidence	<1 / 1 000 000	0.038	Poland	Validated
Annual incidence	<1 / 1 000 000	0.018	Portugal	Validated
Annual incidence	1-9 / 1 000 000	0.104	Romania	Validated

Signs & symptoms

Clinical features (HPO)

18 HPO clinical features (Orphanet curated; top 18 by frequency):

HPO ID	Term	Frequency
HP:0000217	Xerostomia	Very frequent (80-99%)
HP:0000651	Diplopia	Very frequent (80-99%)
HP:0001260	Dysarthria	Very frequent (80-99%)
HP:0002015	Dysphagia	Very frequent (80-99%)
HP:0002027	Abdominal pain	Very frequent (80-99%)
HP:0006597	Diaphragmatic paralysis	Very frequent (80-99%)
HP:0006824	Cranial nerve paralysis	Very frequent (80-99%)
HP:0010547	Muscle flaccidity	Very frequent (80-99%)
HP:0011499	Mydriasis	Very frequent (80-99%)
HP:0100021	Cerebral palsy	Very frequent (80-99%)
HP:0012378	Fatigue	Very frequent (80-99%)
HP:0000016	Urinary retention	Frequent (30-79%)
HP:0002017	Nausea and vomiting	Frequent (30-79%)
HP:0002019	Constipation	Frequent (30-79%)
HP:0002093	Respiratory insufficiency	Frequent (30-79%)
HP:0011675	Arrhythmia	Frequent (30-79%)
HP:0002014	Diarrhea	Occasional (5-29%)
HP:0009113	Diaphragmatic weakness	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	botulism
Mondo ID	MONDO:0005498
EFO	EFO:0005542
MeSH	D001906
Orphanet	1267
DOID	DOID:11976
ICD-11	78422942
NCIT	C84599
SNOMED CT	398565003
UMLS	C0006057
MedGen	14204
GARD	0000943
MedDRA	10006041
NORD	867
Is cancer (heuristic)	no

Also known as: botulism · botulism poisoning · food poisoning due to Clostridium botulinum · foodborne botulism · foodborne botulism (subtype) · infant botulism (subtype) · intoxication with Clostridium botulinum toxin · wound botulism (subtype)

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 › botulism

Related subtypes (36): Buruli ulcer disease, sennetsu fever, salmonellosis, pinta disease, chancroid, gonorrhea, anthrax infection, leprosy, diphtheria, tetanus, bartonellosis, brucellosis, campylobacteriosis, glanders, granuloma inguinale, legionellosis, leptospirosis, listeriosis, Mycobacterium avium complex disease, 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

Subtypes (4): foodborne botulism, toxin-mediated infectious botulism, inhalational botulism, iatrogenic botulism

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

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 for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Amifampridine.

Clinical trials & evidence

Clinical trials

Clinical trials: 16.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	5
PHASE1	4
PHASE2	3
PHASE4	1
PHASE2/PHASE3	1
PHASE3	1
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02051062	PHASE4	ENROLLING_BY_INVITATION	BT-011 Pharmacokinetics of Botulism Antitoxin Heptavalent in Pediatric Patients
NCT01441557	PHASE2/PHASE3	COMPLETED	Pilot Study on the Usefulness of 3,4-diaminopyridine in the Treatment of Botulism
NCT01940315	PHASE3	WITHDRAWN	Phase 3, Randomized, Safety, Lot Consistency and Clinical Benefit Study of Recombinant Botulinum Vaccine A/B
NCT06580236	PHASE1/PHASE2	NOT_YET_RECRUITING	Study of the Drug B11-FC (Botulism Treatment)
NCT01701999	PHASE2	COMPLETED	Safety, Tolerability, and Immunogenicity Study of Investigational Recombinant Botulinum Vaccine A/B (rBV A/B) in Volunteers Previously Immunized With Investigational Pentavalent Botulinum Toxoid
NCT03676634	PHASE2	COMPLETED	Tolerability and Immunogenicity of rBV A/B for the Production of BabyBIG®
NCT06112834	PHASE2	COMPLETED	Tolerability and Immunogenicity of a Single 40-ug Dose of rBV A/B for the Production of BabyBIG®
NCT01357213	PHASE1	COMPLETED	Phase 1 PK Study of XOMA 3AB
NCT02779140	PHASE1	COMPLETED	Phase I, Dose Escalation Study to Evaluate the Safety and Pharmacokinetics of NTM-1632
NCT03603665	PHASE1	COMPLETED	A Study to Evaluate the Safety and Pharmacokinetics of NTM-1633 vs Placebo Administered Intravenously in Healthy Adults
NCT05769478	PHASE1	COMPLETED	Effect of Amifampridine on Neuromuscular Transmission in Patients Treated With OnabotulinumtoxinA
NCT00004401	Not specified	COMPLETED	Study of Human Botulism Immunoglobulin in Infants With Botulism
NCT00314080	Not specified	COMPLETED	Treatment of Survivors After Botulism Outbreak
NCT00348426	Not specified	COMPLETED	Botulism Outbreak in Thailand (Episode II)
NCT02055183	Not specified	COMPLETED	BT-010 Registry for the Evaluation of Safety and Clinical Outcomes in Patients Treated With Botulinum Antitoxin
NCT04550793	Not specified	UNKNOWN	Using Shear Wave Ultrasound Elastography for Follow up After Anti-spastic Intervention Among Stroke Patients

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
AMIFAMPRIDINE	4	1
BOTULISM ANTITOXIN	1	2