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ORPHA:178478

Infant botulism

low confidenceSubtype of disorder

Also known as: Infant intestinal botulism · Infant intestinal toxemia botulism · Infant intestinal toxin-mediated botulism · Infantile botulism

Publications

1,271

Trials

1

Interventional, condition-specific

Researchers

1,030

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs). It is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (7)

botulism of infancy · infant intestinal botulism · infant intestinal toxaemia botulism · infant intestinal toxemia botulism · infant intestinal toxin-mediated botulism · infantile botulism · infantile onset botulism

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.”

4/6 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

    1,271 matched papers (479 in last 10 years) Source

  3. Phenotype characterisedPresent

    31 HPO annotations (e.g. Chronic otitis media; Cardiac arrest; Abdominal pain) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPartial

    1 FDA designation (none yet with FDA orphan-indication approval) — e.g. Botulism immune globulin Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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)

31

Associated phenotypes · MONDO:0015804

  • Chronic otitis media
  • Cardiac arrest
  • Abdominal pain
  • Respiratory insufficiency due to muscle weakness
  • Cranial nerve paralysis

Showing 5 of 31 — open Monarch for the full list.

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)

1

Designation · no FDA orphan-indication approval yet

  • FDA Botulism immune globulin (BabyBIG)Infant Botulism · 1989-01-31

Sources: FDA OOPD · EMA orphan designations

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?

1,271

1,271 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.

1,271 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).

479 in the last 10 years · low confidence

Phrase hits: 1,271 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,030

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
    Khouri JM10 papers · 2026

    Infant Botulism Treatment and Prevention Program, California Department of Public Health, Richmond.

    Papers in Europe PMC
  2. 02
    Dabritz HA9 papers · 2025

    Infant Botulism Treatment and Prevention Program, California Department of Public Health, Richmond, CA.

    Papers in Europe PMC
  3. 03
    Arnon SS8 papers · 2023

    Infant Botulism Treatment and Prevention Program, Infectious Diseases Laboratory Branch, Division of Communicable Disease Control, Center for Infectious Diseases, California Department of Public Health, Richmond, CA. Electronic address: stephen.arnon@cdph.ca.gov.

    Papers in Europe PMC
  4. 04
    Austin JW7 papers · 2024

    Botulism Reference Service for Canada, Microbiology Research Division, Bureau of Microbial Hazards, Food Directorate, Health Products and Food Branch, Ottawa, ON K1A 0K9, Canada.

    Papers in Europe PMC
  5. 05
    Huang Y7 papers · 2025

    State Key Laboratory of Pathogen and Biosecurity, Institute of Microbiology and Epidemiology, AMMS, Beijing 100071, China.

    Papers in Europe PMC
  6. 06
    Lúquez C7 papers · 2026

    Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

    Papers in Europe PMC
  7. 07
    Xu X7 papers · 2025

    State Key Laboratory for Infectious Disease Prevention and Control and National Institute for Communicable Diseases Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing 102206, China. Electronic address: xuxuefang@icdc.cn.

    Papers in Europe PMC
  8. 08
    Barash JR6 papers · 2026

    Infant Botulism Treatment and Prevention Program, California Department of Public Health, Richmond, California, USA.

    Papers in Europe PMC
  9. 09
    Halpin JL6 papers · 2025

    Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

    Papers in Europe PMC
  10. 10
    Payne JR6 papers · 2025

    Infant Botulism Treatment and Prevention Program, California Department of Public Health, Richmond.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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 2026-07-30

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 Infant botulism — 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.

"Infant botulism" OR "Infant intestinal botulism" OR "Infant intestinal toxemia botulism" OR "Infant intestinal toxin-mediated botulism" OR "Infantile botulism" OR "botulism of infancy" OR "botulism of the infancy" OR "infant intestinal toxaemia botulism" OR "infantile onset botulism"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Infant botulism" OR "Infant intestinal botulism" OR "Infant intestinal toxemia botulism" OR "Infant intestinal toxin-mediated botulism" OR "Infantile botulism" OR "botulism of infancy" OR "botulism of the infancy" OR "infant intestinal toxaemia botulism" OR "infantile onset botulism"

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: 1 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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1271) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T08:53:03.866Z