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ORPHA:1267

Botulism

low confidenceDisorder

Publications

10,473

Trials

17

Interventional, condition-specific

Researchers

1,087

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Botulism is a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), including four clinical forms with different modes of acquisition.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

botulism · botulism poisoning

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.”

3/6 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

    10,473 matched papers (3,301 in last 10 years) Source

  3. Phenotype characterisedPresent

    148 HPO annotations (e.g. Urinary retention; Dysphagia; Nausea and vomiting) 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 trialPresent

    17 matched on ClinicalTrials.gov (2 recruiting in sample)

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)

148

Associated phenotypes · MONDO:0005498

  • Urinary retention
  • Dysphagia
  • Nausea and vomiting
  • Abdominal pain
  • Respiratory insufficiency

Showing 5 of 148 — 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

2

Drugs / clinical candidates · MONDO_0005498

CTD chemicals (MyDisease.info)

5 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Antitoxins · therapeutic
  • Botulinum Toxins · marker/mechanism
  • Botulinum Toxins, Type A · marker/mechanism
  • Cocaine · marker/mechanism
  • rimabotulinumtoxinB · marker/mechanism

MyDisease.info · MONDO:0005498

Literature

Is anyone studying this?

10,473

10,473 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

10,473 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).

3,301 in the last 10 years · low confidence

Phrase hits: 10,473 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,087

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
    Godbole G5 papers · 2025

    United Kingdom Health Security Agency (UKHSA), London, United Kingdom.

    Papers in Europe PMC
  2. 02
    Bano L4 papers · 2026

    Istituto Zooprofilattico Sperimentale delle Venezie, SCT2 Sez. Territoriale di Treviso, 31020 Villorba, Italy.

    Papers in Europe PMC
  3. 03
    Barash JR4 papers · 2026

    Microbial Diseases Laboratory Branch, Infectious Diseases Laboratories Division, California Department of Public Health, Richmond, CA.

    Papers in Europe PMC
  4. 04
    Drigo I4 papers · 2026

    Istituto Zooprofilattico Sperimentale delle Venezie, SCT2 Sez. Territoriale di Treviso, 31020 Villorba, Italy.

    Papers in Europe PMC
  5. 05
    Liu H4 papers · 2026

    Department of Critical Care Medicine, Shandong Public Health Clinical Center, Jinan, China.

    Papers in Europe PMC
  6. 06
    Rajendram D4 papers · 2025

    United Kingdom Health Security Agency (UKHSA), London, United Kingdom.

    Papers in Europe PMC
  7. 07
    Wong VK4 papers · 2025

    United Kingdom Health Security Agency (UKHSA), London, United Kingdom.

    Papers in Europe PMC
  8. 08
    Ahmed B3 papers · 2025

    United Kingdom Health Security Agency (UKHSA), London, United Kingdom.

    Papers in Europe PMC
  9. 09
    Dorner BG3 papers · 2025

    Consultant Laboratory for Neurotoxin-Producing Clostridia (Botulism, Tetanus), ZBS3 - Biological Toxins, Robert Koch Institute, Berlin, Germany.

    Papers in Europe PMC
  10. 10
    Dorner MB3 papers · 2025

    Consultant Laboratory for Neurotoxin-Producing Clostridia (Botulism, Tetanus), ZBS3 - Biological Toxins, Robert Koch Institute, Berlin, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

17

interventional trials for this specific condition

17 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 11 September 2026

17 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.4th percentile).

low confidence · 94.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

5 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (1)

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 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.

"Botulism" OR "botulism poisoning"

Run this search on Europe PMC

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

"Botulism" OR "botulism poisoning"

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: 17 interventional · 5 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (10473) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T16:53:05.194Z