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ORPHA:3386

American trypanosomiasis

high confidenceDisorder

Also known as: Chagas disease

Publications

32,777

97.9th percentile

Trials

45

Interventional, condition-specific

Researchers

1,294

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A tropical disease mainly found in latin America and transmitted by triatomine insects (mostly Triatoma infestans and Rhodnius prolixus and Panstrongylus megistus) harboring the hemoflagellate protozoan parasite Trypanosoma cruzi. The disease is characterized by an acute phase which is either asymptomatic or manifest with fever, inflammation at the inoculation site (inoculation chancre or chagoma), unilateral palpebral edema called the Romaña sign (when the triatomine bite occurs near the eye), enlarged lymph nodes, and . The chronic phase is lifelong and development of chagasic (30%; complex arrhythmias, heart failure, and thromboembolic events), digestive (10%; megaoesophagus and megacolon), neurological (10%; stroke, peripheral and autonomic dysfunction), or mixed alterations (10%) may be observed. These can all lead to high morbidity and mortality rates.

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)

Chagas' disease · Trypanosoma cruzi caused disease or disorder · Trypanosoma cruzi disease or disorder · Trypanosoma cruzi infectious disease · infection by trypanosoma cruzi

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

    32,777 matched papers (14,178 in last 10 years) Source

  3. Phenotype characterisedPresent

    27 HPO annotations (e.g. Splenomegaly; Lymphadenopathy; Myalgia) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    6 FDA designations (4 FDA orphan-indication approvals) — e.g. Pyronaridine Source

  6. Interventional trialPresent

    45 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)

27

Associated phenotypes · MONDO:0001444

  • Splenomegaly
  • Lymphadenopathy
  • Myalgia
  • Localized skin lesion
  • Cough

Showing 5 of 27 — 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)

6

Designations · 4 with FDA orphan-indication approval

  • FDA PyronaridineChagas Disease · 2019-10-21 · Not FDA Approved for Orphan Indication
  • FDA benznidazoleChagas Disease · 2017-07-05 · Not FDA Approved for Orphan Indication
  • FDA nifurtimoxChagas Disease · 2013-12-31 · Not FDA Approved for Orphan Indication
  • FDA Allopurinol ribosideVisceral leishmaniasis Chagas' disease · 1985-12-04 · Not FDA Approved for Orphan Indication
  • FDA benznidazoleChagas Disease · 2014-04-14
  • FDA nifurtimox (LAMPIT)Chagas Disease · 2010-08-05

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

7

Drugs / clinical candidates · MONDO_0001444

CTD chemicals (MyDisease.info)

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

  • 3-((2-benzyl-6-(3-hydroxy-4-methoxypyrrolidin-1-yl)pyridin-3-yl)ethynyl)quinuclidin-3-ol · therapeutic
  • 3-((2-benzyl-6-(3-methoxypropyloxy)pyridin-3-yl)ethynyl)quinuclidin-3-ol · therapeutic
  • benzonidazole · therapeutic
  • N-pip-phenylalanine-homophenylalanine-vinyl sulfone phenyl · therapeutic
  • Nifurtimox · therapeutic
  • Nitrofurazone · therapeutic

MyDisease.info · MONDO:0001444

Literature

Is anyone studying this?

32,777

32,777 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.

32,777 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).

14,178 in the last 10 years · high confidence · 97.9th percentile (publications denominator)

Phrase hits: 32,777 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,294

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
    Dumonteil E8 papers · 2026

    Department of Tropical Medicine and Infectious Disease, School of Public Health and Tropical Medicine, and Vector-Borne and Infectious Disease Research Center, Tulane University, New Orleans, LA, USA.

    Papers in Europe PMC
  2. 02
    Molina I6 papers · 2026

    International Health Unit Vall d'Hebron-Drassanes, Infectious Diseases Department, Vall d'Hebron University Hospital, PROSICS Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III, Madrid, Spain.

    Papers in Europe PMC
  3. 03
    Nogueda-Torres B6 papers · 2026

    Comisión de Operación y Fomento de Actividades Académicas, Laboratorio de Helmintología, Departamento de Parasitología, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Ciudad de México, Mexico. Electronic address: bnogueda@gmail.com.

    Papers in Europe PMC
  4. 04
    Herrera C5 papers · 2026

    Department of Tropical Medicine and Infectious Disease, School of Public Health and Tropical Medicine, and Vector-Borne and Infectious Disease Research Center, Tulane University, New Orleans, LA, USA.

    Papers in Europe PMC
  5. 05
    Elkheir N4 papers · 2026

    Clinical Research Department, London School of Hygiene & Tropical Medicine, London, UK.

    Papers in Europe PMC
  6. 06
    Moreira OC4 papers · 2026

    Laboratório de Virologia e Parasitologia Molecular, Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil.

    Papers in Europe PMC
  7. 07
    Rivera G4 papers · 2026

    Laboratorio de Biotecnología Farmacéutica, Centro de Biotecnología Genómica, Instituto Politécnico Nacional, Reynosa 88710, Mexico.

    Papers in Europe PMC
  8. 08
    Beatty NL3 papers · 2026

    Division of Infectious Diseases and Global Medicine, Department of Medicine, University of Florida College of Medicine, Gainesville, FL, USA.

    Papers in Europe PMC
  9. 09
    Bosch-Nicolau P3 papers · 2026

    International Health Unit Vall d'Hebron-Drassanes, Infectious Diseases Department, Vall d'Hebron University Hospital, PROSICS Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III, Madrid, Spain. Electronic address: pau.bosch@vallhebron.cat.

    Papers in Europe PMC
  10. 10
    Cardoso CS3 papers · 2026

    Telehealth Center and Research Group in Epidemiology and Evaluation of New Technologies in Health, Federal University of São João del-Rei, Divinópolis, Brazil.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

45

interventional trials for this specific condition

45 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 25 trials are registered for trypanosomiasis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

45 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97th percentile).

high confidence · 97th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: trypanosomiasis

25

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

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

23 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 15 · after dedupe 15 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 15 · 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 (15)

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 American trypanosomiasis — 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.

"American trypanosomiasis" OR "Chagas disease" OR "Chagas' disease" OR "Trypanosoma cruzi infectious disease" OR "infection by trypanosoma cruzi"

Run this search on Europe PMC

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

"American trypanosomiasis" OR "Chagas disease" OR "Chagas' disease" OR "Trypanosoma cruzi infectious disease" OR "infection by trypanosoma cruzi"

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: 45 interventional · 23 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"trypanosomiasis"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: Trypanosoma cruzi caused disease or disorder; Trypanosoma cruzi disease or disorder

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 2026-07-26T23:04:18.643Z