RARE DISEASERESEARCH ATLAS
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ORPHA:548

Leprosy

low confidenceDisorder

Publications

73,555

Trials

38

Interventional, condition-specific

Researchers

1,071

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A chronic infectious disease affecting primarily the skin and peripheral nervous system.

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 (5)

Hansen disease · Hansen's disease · Mycobacterium leprae caused disease or disorder · Mycobacterium leprae disease or disorder · Mycobacterium leprae infectious disease

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

    73,555 matched papers (22,420 in last 10 years) Source

  3. Phenotype characterisedPresent

    49 HPO annotations (e.g. Muscle weakness; Alopecia; Abnormality of the upper respiratory tract) 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

    38 matched on ClinicalTrials.gov (9 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)

49

Associated phenotypes · MONDO:0005124

  • Muscle weakness
  • Alopecia
  • Abnormality of the upper respiratory tract
  • Absent eyebrow
  • Foot dorsiflexor weakness

Showing 5 of 49 — 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

4

Drugs / clinical candidates · MONDO_0005124

CTD chemicals (MyDisease.info)

8 associated chemicals · 66 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Chloroquine · therapeutic
  • Clofazimine · therapeutic
  • Dapsone · therapeutic
  • Prednisolone · therapeutic
  • Rifampin · therapeutic
  • Thalidomide · therapeutic
  • triptolide · therapeutic
  • Reactive Oxygen Species · marker/mechanism

Pathways: Cytokine-cytokine receptor interaction; NF-kappa B signaling pathway; Lysosome; Phagosome; PI3K-Akt signaling pathway; Toll-like receptor signaling pathway; Jak-STAT signaling pathway; Th17 cell differentiation

MyDisease.info · MONDO:0005124

Literature

Is anyone studying this?

73,555

73,555 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.

73,555 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).

22,420 in the last 10 years · low confidence

Phrase hits: 73,555 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,071

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
    Fastenau A7 papers · 2026

    Department of Global Health, Institute of Public Health and Nursing Research, University of Bremen, Bremen, Germany. fastenau@uni-bremen.de.

    Papers in Europe PMC
  2. 02
    Avanzi C4 papers · 2026

    Mycobacteria Research Laboratories, Colorado State University, Department of Microbiology, Immunology and Pathology, Fort Collins, CO, USA.

    Papers in Europe PMC
  3. 03
    Chukwu J4 papers · 2026

    Medical Department, RedAid Nigeria, Enugu 400001 Enugu State, Nigeria.

    Papers in Europe PMC
  4. 04
    Deps PD4 papers · 2026

    Department of Social Medicine, Postgraduate Program in Infectious Diseases, Federal University of Espírito Santo, Vitória, ES, Brazil.

    Papers in Europe PMC
  5. 05
    Egbule D4 papers · 2026

    RedAid Nigeria, Enugu, Nigeria.

    Papers in Europe PMC
  6. 06
    Ekeke N4 papers · 2026

    Medical Department, RedAid Nigeria, Enugu 400001 Enugu State, Nigeria.

    Papers in Europe PMC
  7. 07
    Eze C4 papers · 2026

    Medical Department, RedAid Nigeria, Enugu 400001 Enugu State, Nigeria.

    Papers in Europe PMC
  8. 08
    Frade MAC4 papers · 2026

    Department of Interne Medicine - Dermatology, Faculty of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.

    Papers in Europe PMC
  9. 09
    Kumar S4 papers · 2025

    Respiratory Medicine, Autonomous State Medical College, Etah, IND.

    Papers in Europe PMC
  10. 10
    Lahiri R4 papers · 2026

    Kusuma School of Biological Sciences, Indian Institute of Technology Delhi, Hauz Khas, New Delhi, 110016, India.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

38

interventional trials for this specific condition

38 interventional trials matched this specific condition name; 9 currently recruiting in our sample.

Data as of 11 September 2026

38 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.6th percentile).

low confidence · 96.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

38 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 42 · after dedupe 42 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 42 · 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 (42)

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 Leprosy — 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.

"Leprosy" OR "Hansen disease" OR "Hansen's disease" OR "Mycobacterium leprae infectious disease"

Run this search on Europe PMC

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

"Leprosy" OR "Hansen disease" OR "Hansen's disease" OR "Mycobacterium leprae infectious disease"

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: 38 interventional · 10 observational · 1 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: Mycobacterium leprae caused disease or disorder; Mycobacterium leprae 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
  • Publication count (73555) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T14:17:15.727Z