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ORPHA:507

Leishmaniasis

medium confidenceDisorder

Publications

57,699

98.9th percentile

Trials

156

Interventional, condition-specific

Researchers

1,341

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A parasitic disease caused by protozoa of the genus Leishmania (>20 pathogenic species), transmitted by the bite of infected female phlebotomine sandflies. Three main syndromes are recognized: visceral (VL), cutaneous (CL; localized and diffuse forms) and mucocutaneous leishmaniasis. Post-kala-azar dermal leishmaniasis (PKDL) is a cutaneous sequela of VL. Most infections remain asymptomatic.

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.

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

    57,699 matched papers (25,469 in last 10 years) Source

  3. Phenotype characterisedPresent

    26 HPO annotations (e.g. Abnormal bleeding; Recurrent fever; Hepatomegaly) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    2 FDA · 2 EMA designations (1 FDA orphan-indication approval) — e.g. oleylphosphocholine Source

  6. Interventional trialPresent

    156 matched on ClinicalTrials.gov (15 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)

26

Associated phenotypes · MONDO:0011989

  • Abnormal bleeding
  • Recurrent fever
  • Hepatomegaly
  • Lymphadenopathy
  • Abnormal macrophage morphology

Showing 5 of 26 — 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)

4

Designations · 1 with FDA orphan-indication approval

  • FDA oleylphosphocholineLeishmaniasis · 2013-10-25 · Not FDA Approved for Orphan Indication
  • EMA oleylphosphocholineTreatment of leishmaniasis · 23/04/2012 · PositiveEMA designation
  • EMA unknownTreatment of leishmaniasis · 19/02/2021 · PositiveEMA designation
  • FDA miltefosine (IMPAVIDO)Leishmaniasis · 2006-10-10

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

17

Drugs / clinical candidates · MONDO_0011989

CTD chemicals (MyDisease.info)

32 associated chemicals · 115 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • 5,7-dihydroxy-8-(2-methylbutanoyl)-6-(3-methylbutyl)-4-phenyl-chroman-2-one · therapeutic
  • aloenin · therapeutic
  • Amphotericin B · therapeutic
  • Antimony · therapeutic
  • Antimony Sodium Gluconate · therapeutic
  • Antiprotozoal Agents · therapeutic
  • Arsenicals · therapeutic
  • Atovaquone · therapeutic
  • carvacrol · therapeutic
  • Chromans · therapeutic
  • elemene · therapeutic
  • fenarimol · therapeutic

Pathways: Arginine biosynthesis; Arginine and proline metabolism; Metabolic pathways; Biosynthesis of amino acids; EGFR tyrosine kinase inhibitor resistance; Antifolate resistance; Proteasome; MAPK signaling pathway

MyDisease.info · MONDO:0011989

Literature

Is anyone studying this?

57,699

57,699 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.

57,699 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).

25,469 in the last 10 years · medium confidence · 98.9th percentile (publications denominator)

Phrase hits: 57,699 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,341

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
    Cherkose T6 papers · 2026

    Malaria and Neglected Tropical Diseases, Armauer Hansen Research Institute, Addis Ababa, Ethiopia.

    Papers in Europe PMC
  2. 02
    Gadisa E6 papers · 2026

    Malaria and Neglected Tropical Diseases, Armauer Hansen Research Institute, Addis Ababa, Ethiopia.

    Papers in Europe PMC
  3. 03
    Wendimu DE5 papers · 2026

    Malaria and Neglected Tropical Diseases, Armauer Hansen Research Institute, Addis Ababa, Ethiopia.

    Papers in Europe PMC
  4. 04
    Daba DB4 papers · 2026

    Malaria and Neglected Tropical Diseases, Armauer Hansen Research Institute, Addis Ababa, Ethiopia.

    Papers in Europe PMC
  5. 05
    Kassa FA4 papers · 2026

    Malaria and Neglected Tropical Diseases, Armauer Hansen Research Institute, Addis Ababa, Ethiopia.

    Papers in Europe PMC
  6. 06
    Molla E4 papers · 2026

    Malaria and Neglected Tropical Diseases, Armauer Hansen Research Institute, Addis Ababa, Ethiopia.

    Papers in Europe PMC
  7. 07
    Nigusse T4 papers · 2026

    Malaria and Neglected Tropical Diseases, Armauer Hansen Research Institute, Addis Ababa, Ethiopia.

    Papers in Europe PMC
  8. 08
    Walker SL4 papers · 2026

    Department of Clinical Research, Faculty of Infectious and Tropical Diseases, London School of Hygiene & Tropical Medicine, London, UK.

    Papers in Europe PMC
  9. 09
    Asefa A3 papers · 2026

    Malaria and Neglected Tropical Diseases, Armauer Hansen Research Institute, Addis Ababa, Ethiopia.

    Papers in Europe PMC
  10. 10
    Ayana GM3 papers · 2026

    Malaria and Neglected Tropical Diseases, Armauer Hansen Research Institute, Addis Ababa, Ethiopia. gelomamo724@gmail.com.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

156

interventional trials for this specific condition

156 interventional trials matched this specific condition name; 15 currently recruiting in our sample.

Data as of 11 September 2026

156 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99th percentile).

medium confidence · 99th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

46 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 19 · after dedupe 19 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 19 · 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 (19)

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 Leishmaniasis — 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.

"Leishmaniasis"

Run this search on Europe PMC

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

"Leishmaniasis"

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: 156 interventional · 46 observational · 3 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

Ingested 2026-07-26T14:05:41.140Z