RARE DISEASERESEARCH ATLAS

ORPHA:509

Leptospirosis

medium confidenceDisorder

Publications

22,089

96.7th percentile

Trials

12

Interventional, condition-specific

Researchers

1,163

Distinct authors in sample

Gene link

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

An anthropozoonosis, rare in Europe, clinically characterized by an initial presentation of flu-like symptoms rapidly progressing into life-threatening multisystem failure (notably hepatonephritis) caused by spiral-shaped bacteria belonging to the genus Leptospira. Leptospirosis is a widespread zoonosis with a worldwide distribution and has emerged as a major public health problem in developing countries in South-East Asia and South America.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

Leptospira caused disease or disorder · Leptospira disease or disorder · Leptospira infectious disease · leptospirosis · nanukayami fever

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

    22,089 matched papers (9,255 in last 10 years) Source

  3. Phenotype characterisedPresent

    41 HPO annotations (e.g. Conjunctival hyperemia; Morphological central nervous system abnormality; Cough) 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

    12 matched on ClinicalTrials.gov (6 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)

41

Associated phenotypes · MONDO:0005825

  • Conjunctival hyperemia
  • Morphological central nervous system abnormality
  • Cough
  • Chills
  • Pharyngitis

Showing 5 of 41 — 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?

22,089

22,089 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.

22,089 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).

9,255 in the last 10 years · medium confidence · 96.7th percentile (publications denominator)

Phrase hits: 22,089 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,163

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
    Lilenbaum W6 papers · 2026

    Laboratory of Veterinary Bacteriology, Biomedical Institute, Federal Fluminense University, Niterói, Rio de Janeiro, Brazil.

    Papers in Europe PMC
  2. 02
    Nally JE6 papers · 2026

    Infectious Bacterial Diseases Research Unit, Agricultural Research Service, United States Department of Agriculture, Ames, IA, USA. jarlath.nally@usda.gov.

    Papers in Europe PMC
  3. 03
    Hanson J5 papers · 2026

    Department of Medicine, Cairns Hospital, Cairns, QLD 4870, Australia.

    Papers in Europe PMC
  4. 04
    Rosengren P5 papers · 2026

    School of Medicine and Dentistry, James Cook University, Cairns, QLD 4870, Australia.

    Papers in Europe PMC
  5. 05
    Smith S5 papers · 2026

    Department of Medicine, Cairns Hospital, Cairns, QLD 4870, Australia.

    Papers in Europe PMC
  6. 06
    Aymée L4 papers · 2026

    Laboratory of Veterinary Bacteriology, Biomedical Institute, Federal Fluminense University, Niterói, Rio de Janeiro, Brazil.

    Papers in Europe PMC
  7. 07
    Di Azevedo MIN4 papers · 2026

    Laboratory of Investigation in Medical Microbiology, Institute of Microbiology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.

    Papers in Europe PMC
  8. 08
    Koizumi N4 papers · 2026

    Department of Bacteriology I, National Institute of Infectious Diseases, Japan Institute for Health Security, Shinjuku, Tokyo, Japan.

    Papers in Europe PMC
  9. 09
    Picardeau M4 papers · 2026

    Biology of Spirochetes Unit, National Reference Center for Leptospirosis, WHO Collaborating Center for Reference and Research on Leptospirosis, Institut Pasteur de Paris, Paris, France.

    Papers in Europe PMC
  10. 10
    Stratton H4 papers · 2026

    Department of Medicine, Cairns Hospital, Cairns, QLD 4870, Australia.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

12

interventional trials for this specific condition

12 interventional trials matched this specific condition name; 6 currently recruiting in our sample.

Data as of 11 September 2026

12 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.2th percentile).

medium confidence · 93.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

10 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.

Recruiting or not-yet-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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · 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 (4)

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 Leptospirosis — 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.

"Leptospirosis" OR "Leptospira infectious disease" OR "nanukayami fever"

Run this search on Europe PMC

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

"Leptospirosis" OR "Leptospira infectious disease" OR "nanukayami fever"

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: 12 interventional · 10 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

Synonyms dropped by stoplist: Leptospira caused disease or disorder; Leptospira disease or disorder

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

Ingested 2026-07-26T14:06:31.228Z