RARE DISEASERESEARCH ATLAS

ORPHA:178487

Adult intestinal botulism

high confidenceSubtype of disorder

Also known as: Adult intestinal colonization botulism · Adult intestinal toxemia botulism · Adult intestinal toxin-mediated botulism · Infant-like botulism

Publications

85

49.9th percentile

Trials

0

Interventional, condition-specific

Researchers

412

Distinct authors in sample

Gene link

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and 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)

adult intestinal colonisation botulism · adult intestinal colonization botulism · adult intestinal toxaemia botulism · adult intestinal toxemia botulism · adult intestinal toxin-mediated botulism · infant-like botulism · intestinal botulism of adults

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    85 matched papers (59 in last 10 years) Source

  3. Phenotype characterisedPresent

    10 HPO annotations (e.g. Diaphragmatic paralysis; Cranial nerve paralysis; Ptosis) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

10

Associated phenotypes · MONDO:0015806

  • Diaphragmatic paralysis
  • Cranial nerve paralysis
  • Ptosis
  • Muscle weakness
  • Diarrhea

Showing 5 of 10 — 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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

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?

85

85 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=3967) is 59.

85 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).

59 in the last 10 years · high confidence · 49.9th percentile (publications denominator)

Phrase hits: 85 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

412

Distinct author names in 85 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.

  1. 01
    Anniballi F7 papers · 2021

    National Reference Centre for Botulism, Nutrition and Veterinary Public Health, Department of Food Safety, Istituto Superiore di Sanità, 00161 Rome, Italy.

    Papers in Europe PMC
  2. 02
    Austin JW5 papers · 2024

    Bureau of Microbial Hazards, Health Canada, Ottawa, ON, Canada.

    Papers in Europe PMC
  3. 03
    Popoff MR5 papers · 2026

    Institut Pasteur, Département de Microbiologie, Unité des Toxines Bactériennes, 25 Rue du Docteur Roux, 75015 Paris, France. michel-robert.popoff@pasteur.fr.

    Papers in Europe PMC
  4. 04
    Lista F4 papers · 2025

    Sezione di Istologia e Biologia Molecolare, Centro di ricerca Medica e Veterinaria del Ministero della Difesa, Rome, Italy.

    Papers in Europe PMC
  5. 05
    Aureli P3 papers · 2007
    Papers in Europe PMC
  6. 06
    Chatham-Stephens K3 papers · 2021

    Division of Foodborne, Waterborne, and Environmental Diseases, National Center for Emerging and Zoonotic Infectious Diseases, CDC.

    Papers in Europe PMC
  7. 07
    Fenicia L3 papers · 2012

    National Reference Center for Botulism, National Center for Food Quality and Risk Assessment, Istituto Superiore di Sanità, Viale Regina Elena 299, Rome, Italy. fenicia@iss.it

    Papers in Europe PMC
  8. 08
    Fillo S3 papers · 2025

    Histology and Molecular Biology Section, Army Medical & Veterinary Research Centre, Via Santo Stefano Rotondo 4, 00184 Rome, Italy.

    Papers in Europe PMC
  9. 09
    Franciosa G3 papers · 2022

    Centro Nazionale per la Qualità degli Alimenti e per i Rischi Alimentari, Reparto Pericoli Microbiologici Connessi agli Alimenti, Istituto Superiore della Sanità, Rome, Italy.

    Papers in Europe PMC
  10. 10
    Fujinaga Y3 papers · 2026

    Department of Bacteriology, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan.

    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).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

Broader category intestinal botulism also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: intestinal botulism

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 Adult intestinal 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.

"Adult intestinal botulism" OR "Adult intestinal colonization botulism" OR "Adult intestinal toxemia botulism" OR "Adult intestinal toxin-mediated botulism" OR "Infant-like botulism" OR "adult intestinal colonisation botulism" OR "adult intestinal toxaemia botulism" OR "intestinal botulism of adults" OR "intestinal botulism of the adults"

Run this search on Europe PMC

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

"Adult intestinal botulism" OR "Adult intestinal colonization botulism" OR "Adult intestinal toxemia botulism" OR "Adult intestinal toxin-mediated botulism" OR "Infant-like botulism" OR "adult intestinal colonisation botulism" OR "adult intestinal toxaemia botulism" OR "intestinal botulism of adults" OR "intestinal botulism of the adults"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"intestinal botulism"

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 2026-07-27T08:53:21.520Z