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ORPHA:1247

Schistosomiasis

low confidenceDisorder

Also known as: Bilharziasis

Publications

55,202

Trials

59

Interventional, condition-specific

Researchers

1,318

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare parasitic disease characterized by infection with trematodes of the genus Schistosoma. Humans become infected when larvae (cercariae) in infested freshwater penetrate the skin, potentially causing cercarial dermatitis. After a few weeks, eggs laid by the adult female worms living in blood vessels become trapped in body tissues, causing organ damage due to inflammation, granuloma formation, and fibrosis. Acute schistosomiasis presents with fever, cough, headache, and urticaria, while chronic manifestations depend on the localization of the eggs and typically include abdominal pain, diarrhea, , blood in stool or urine, and dysuria, among others.

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 (4)

Bilharzia · bilharziasis · schistosomiasis · snail 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.”

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

    55,202 matched papers (19,030 in last 10 years) Source

  3. Phenotype characterisedPresent

    4 HPO annotations (e.g. Hematuria; Hepatosplenomegaly; Increased total eosinophil count) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    2 FDA designations (2 FDA orphan-indication approvals) — e.g. miltefosine Source

  6. Interventional trialPresent

    59 matched on ClinicalTrials.gov (5 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)

4

Associated phenotypes · MONDO:0015254

  • Hematuria
  • Hepatosplenomegaly
  • Increased total eosinophil count
  • Hematochezia

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)

2

Designations · 2 with FDA orphan-indication approval

  • FDA miltefosineSchistosomiasis · 2017-08-02 · Not FDA Approved for Orphan Indication
  • FDA (R)-praziquantelSchistosomiasis · 2017-06-27 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

18

Drugs / clinical candidates · MONDO_0015254

CTD chemicals (MyDisease.info)

2 associated chemicals · 22 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Praziquantel · therapeutic
  • Trichlorfon · therapeutic

Pathways: Ras signaling pathway; Peroxisome; Hippo signaling pathway; Hippo signaling pathway -multiple species; Pathways in cancer; Proteoglycans in cancer; MicroRNAs in cancer; Bladder cancer

MyDisease.info · MONDO:0015254

Literature

Is anyone studying this?

55,202

55,202 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.

55,202 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).

19,030 in the last 10 years · low confidence

Phrase hits: 55,202 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,318

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
    Chami GF8 papers · 2026

    Big Data Institute, Nuffield Department of Population Health, University of Oxford, Oxford, UK. goylette.chami@ndph.ox.ac.uk.

    Papers in Europe PMC
  2. 02
    Kabatereine NB6 papers · 2026

    Division of Vector Borne Diseases and Neglected Tropical Diseases, Uganda Ministry of Health, Kampala, Uganda.

    Papers in Europe PMC
  3. 03
    Nabatte B6 papers · 2026

    Division of Vector Borne Diseases and Neglected Tropical Diseases, Uganda Ministry of Health, Kampala, Uganda.

    Papers in Europe PMC
  4. 04
    Zhou Y5 papers · 2026

    Fudan University School of Public Health, Building 8, 130 Dong'an Road, Shanghai 200032, China; Key Laboratory of Public Health Safety, Fudan University, Ministry of Education, Building 8, 130 Dong'an Road, Shanghai 200032, China; Fudan University Center for Tropical Disease Research, Building 8, 130 Dong'an Road, Shanghai 200032, China. Electronic address: ybzhou@fudan.edu.cn.

    Papers in Europe PMC
  5. 05
    Anguajibi V4 papers · 2026

    Uganda Institute of Allied Health Sciences, Kampala, Uganda.

    Papers in Europe PMC
  6. 06
    Li J4 papers · 2026

    National Center for STD/AIDS Prevention and Control, Chinese Center for Disease Control and Prevention (China CDC), Beijing, 102206, China. jli@chinaaids.cn.

    Papers in Europe PMC
  7. 07
    Liu Y4 papers · 2026

    Department of pathology, Yijishan Hospital of Wannan Medical College, Wuhu, 241000, Anhui, China.

    Papers in Europe PMC
  8. 08
    Stothard JR4 papers · 2026

    Tropical Disease Biology, Liverpool School of Tropical Medicine, Liverpool L3 5QA, UK.

    Papers in Europe PMC
  9. 09
    Wang X4 papers · 2026

    State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Diseases, Key Laboratory for Zoonosis Research of the Ministry of Education, Institute of Zoonosis, and College of Veterinary Medicine, Jilin University, Changchun 130062, China.

    Papers in Europe PMC
  10. 10
    Agbana T3 papers · 2026

    AiDx Medical Bv, 2641 KM Pijnacker, The Netherlands.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

59

interventional trials for this specific condition

59 interventional trials matched this specific condition name; 5 currently recruiting in our sample.

Data as of 11 September 2026

59 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.5th percentile).

low confidence · 97.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

30 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 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · 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 (40)

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 Schistosomiasis — 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.

"Schistosomiasis" OR "Bilharziasis" OR "Bilharzia" OR "snail fever"

Run this search on Europe PMC

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

"Schistosomiasis" OR "Bilharziasis" OR "Bilharzia" OR "snail 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: 59 interventional · 30 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 (55202) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T16:50:02.648Z