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ORPHA:2737

Onchocerciasis

medium confidenceDisorder

Publications

11,049

97.1th percentile

Trials

28

Interventional, condition-specific

Researchers

1,133

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy.

How rare: >1 / 1000

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

Onchocerca volvulus infection · infection by Onchocerca volvulus · onchocerciasis

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.”

2/6 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

    11,049 matched papers (4,084 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    28 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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

11,049

11,049 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=5449) is 41.

11,049 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

4,084 in the last 10 years · medium confidence · 97.1th percentile (publications denominator)

Phrase hits: 11,049 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,133

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
    Colebunders R25 papers · 2026

    Global Health Institute, University of Antwerp, Antwerp, Flanders, 2610, Belgium.

    Papers in Europe PMC
  2. 02
    Boakye DA17 papers · 2026

    The Ending Neglected Diseases (END) Fund - New York, United States Noguchi Memorial Institute for Medical Research, Ghana.

    Papers in Europe PMC
  3. 03
    de Souza DK13 papers · 2026

    Department of Parasitology, Noguchi Memorial Institute for Medical Research (NMIMR), College of Health Sciences, University of Ghana, Accra, Ghana.

    Papers in Europe PMC
  4. 04
    Koala L13 papers · 2026

    Centre National de Recherche Scientifique et Technologique (CNRST)/ Institut de Recherche en Sciences de La Santé (IRSS), Département Biomédical et Santé Publique, Direction Régionale de L'Ouest, Burkina Faso.

    Papers in Europe PMC
  5. 05
    Mackenzie CD12 papers · 2026

    RLMF, The END Fund, New York, NY 10016, USA.

    Papers in Europe PMC
  6. 06
    Surakat O12 papers · 2026

    Department of Animal and Environmental Biology, Osun State University, Osogbo, Nigeria.

    Papers in Europe PMC
  7. 07
    Ayisi F11 papers · 2026

    African Regional Postgraduate Programme in Insect Science (ARPPIS), University of Ghana, Accra, Ghana.

    Papers in Europe PMC
  8. 08
    Siewe Fodjo JN11 papers · 2026

    Global Health Institute, University of Antwerp, Antwerp, Flanders, 2610, Belgium.

    Papers in Europe PMC
  9. 09
    Amaral LJ10 papers · 2025

    Global Health Institute, University of Antwerp, Antwerp, Flanders, 2610, Belgium.

    Papers in Europe PMC
  10. 10
    Basáñez MG10 papers · 2026

    Department of Infectious Disease Epidemiology, London Centre for Neglected Tropical Disease Research and MRC Centre for Global Infectious Disease Analysis, Imperial College London, London, UK.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

28

interventional trials for this specific condition

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

Data as of 27 July 2026

28 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 95.5th percentile).

medium confidence · 95.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

8 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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"Onchocerciasis" OR "Onchocerca volvulus infection" OR "infection by Onchocerca volvulus"

Run this search on Europe PMC

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

"Onchocerciasis" OR "Onchocerca volvulus infection" OR "infection by Onchocerca volvulus"

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: 28 interventional · 8 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

Ingested 2026-07-26T21:01:32.777Z