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ORPHA:2459

Mansonelliasis

low confidenceDisorder

Also known as: Mansonellosis

Publications

1,325

Trials

6

Interventional, condition-specific

Researchers

1,169

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A form of filariasis, distributed throughout sub-Saharan Africa as well as in some locations of Central and South America and the Caribbean, caused by the parasitic worms Mansonella perstans and Mansonella ozzardi. The disease is often asymptomatic but may also cause fever, vertigo, myalgias, arthralgias and a sensation of coldness in the legs. Additional features include neuropsychiatric symptoms, skin rash, pruritus, nodules containing adult worms (in the conjunctiva or eyelids), lymphadenopathy, recurrent lymphedema in the limbs and face (resembling the Calabar swellings of loasis), severe abdominal pain and endocrine disturbances.

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 (9)

Acanthocheilonema perstans infection · Acanthocheilonemiasis · Dipetalonema infection · Dipetalonema infections · Mansonella perstans · Mansonella perstans caused disease or disorder · Mansonella perstans infections · dipetalonemiasis · infection by Dipetalonema perstans (disorder) [ambiguous]

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

    1,325 matched papers (518 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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

    6 matched on ClinicalTrials.gov (1 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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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

3

Drugs / clinical candidates · MONDO_0005838

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,325

1,325 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,325 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).

518 in the last 10 years · low confidence

Phrase hits: 1,325 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,169

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
    Wanji S25 papers · 2025

    Parasites and Vector Biology research unit (PAVBRU), Department of Microbiology and Parasitology, University of Buea, Buea, Cameroon.

    Papers in Europe PMC
  2. 02
    Hoerauf A24 papers · 2026

    Institute of Medical Microbiology, Immunology and Parasitology (IMMIP), University Hospital Bonn, Venusberg-Campus 1, 53127, Bonn, Germany. achim.hoerauf@ukbonn.de.

    Papers in Europe PMC
  3. 03
    Fombad FF17 papers · 2025

    Parasites and Vector Biology research unit (PAVBRU), Department of Microbiology and Parasitology, University of Buea, Buea, Cameroon.

    Papers in Europe PMC
  4. 04
    Ritter M17 papers · 2025

    Institute of Medical Microbiology, Immunology and Parasitology (IMMIP), University Hospital of Bonn, Bonn, Germany.

    Papers in Europe PMC
  5. 05
    Rubio JM15 papers · 2025

    National Microbiology Centre, Institute of Health Carlos III, Malaria and Emerging Parasitic Diseases Laboratory, Madrid, Spain.

    Papers in Europe PMC
  6. 06
    Ramharter M13 papers · 2026

    Department of Tropical Medicine, Bernhard Nocht Institute for Tropical Medicine & I. Dep. of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

    Papers in Europe PMC
  7. 07
    Kien CA11 papers · 2025

    Parasite and Vector Research Unit (PAVRU), Department of Microbiology and Parasitology, University of Buea, Buea, Cameroon.

    Papers in Europe PMC
  8. 08
    Njouendou AJ11 papers · 2024

    Parasites and Vector Biology research unit (PAVBRU), Department of Microbiology and Parasitology, University of Buea, Buea, Cameroon.

    Papers in Europe PMC
  9. 09
    Pfarr K11 papers · 2024

    Institute of Medical Microbiology, Immunology and Parasitology (IMMIP), University Hospital Bonn, Venusberg-Campus 1, 53127, Bonn, Germany. kenneth.pfarr@ukbonn.de.

    Papers in Europe PMC
  10. 10
    Crainey JL10 papers · 2026

    Research Programme on Infectious Disease Ecology in the Amazon, Leônidas & Maria Deane Institute - Fiocruz Amazônia, Manaus, Amazonas, Brazil.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026

6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).

low confidence · 90.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

1 observational study matches 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Mansonelliasis — 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.

"Mansonelliasis" OR "Mansonellosis" OR "Acanthocheilonema perstans infection" OR "Acanthocheilonemiasis" OR "Dipetalonema infection" OR "Dipetalonema infections" OR "Mansonella perstans" OR "Mansonella perstans infections" OR "dipetalonemiasis" OR "infection by Dipetalonema perstans (disorder) [ambiguous]"

Run this search on Europe PMC

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

"Mansonelliasis" OR "Mansonellosis" OR "Acanthocheilonema perstans infection" OR "Acanthocheilonemiasis" OR "Dipetalonema infection" OR "Dipetalonema infections" OR "Mansonella perstans" OR "Mansonella perstans infections" OR "dipetalonemiasis" OR "infection by Dipetalonema perstans (disorder) [ambiguous]"

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: 6 interventional · 1 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

Synonyms dropped by stoplist: Mansonella perstans caused 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 (1325) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T20:12:45.035Z