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3
Phenotypes
1
Treatments
14
References
1
Deep Research

Phenotypes

3
Eye 1
Blindness OCCASIONAL Blindness (HP:0000618)
Show evidence (1 reference)
PMID:16714198 SUPPORT
"Onchocercal ocular disease covers a large spectrum of manifestations, which in severe cases, may lead to blindness."
Severe ocular disease can lead to blindness.
Immune 1
Dermatitis VERY_FREQUENT Eczematoid dermatitis (HP:0000964)
Show evidence (1 reference)
PMID:16714198 SUPPORT
"Skin symptoms are commonly nonspecific and include severe pruritus, acute and chronic dermatitis"
Dermatitis is listed among common skin symptoms.
Integument 1
Pruritus VERY_FREQUENT Pruritus (HP:0000989)
Show evidence (1 reference)
PMID:16714198 SUPPORT
"Skin symptoms are commonly nonspecific and include severe pruritus, acute and chronic dermatitis"
Severe pruritus is a common skin symptom of onchocerciasis.
💊

Treatments

1
Ivermectin therapy
Action: Pharmacotherapy NCIT:C15986
Ivermectin is the drug of choice for skin and ocular manifestations.
Show evidence (1 reference)
PMID:16714198 SUPPORT
"Ivermectin is, at present, the drug of choice for skin and ocular manifestations."
The abstract identifies ivermectin as the drug of choice.
{ }

Source YAML

click to show
name: Onchocerciasis
creation_date: '2026-01-26T15:56:41Z'
updated_date: '2026-04-11T00:41:29Z'
category: Infectious Disease
description: >-
  Onchocerciasis (river blindness) is a filarial infection caused by
  Onchocerca volvulus, transmitted by black flies, leading to pruritus,
  dermatitis, and ocular disease that can progress to blindness.
disease_term:
  term:
    id: MONDO:0017137
    label: onchocerciasis
  preferred_term: Onchocerciasis
parents:
- Helminth infection
- Neglected tropical disease
infectious_agent:
- name: Onchocerca volvulus
  infectious_agent_term:
    preferred_term: Onchocerca volvulus
    term:
      id: NCBITaxon:6282
      label: Onchocerca volvulus
  description: Filarial nematode responsible for onchocerciasis.
  evidence:
  - reference: PMID:16714198
    reference_title: "Onchocerciasis--river blindness."
    supports: SUPPORT
    snippet: "Onchocerciasis results from infestation by the nematode Onchocerca volvulus"
    explanation: The abstract identifies O. volvulus as the causative nematode.
agent_life_cycle:
  description: Larvae transmitted by black flies develop into adult filariae in humans.
  hosts:
  - preferred_term: human
    term:
      id: NCBITaxon:9606
      label: Homo sapiens
    role: definitive host
  - preferred_term: black fly
    term:
      id: NCBITaxon:7190
      label: Simuliidae
    role: intermediate host
  vectors:
  - black flies (Simuliidae)
  life_cycle_stages:
  - name: Larvae develop into adult filariae after transmission
    life_cycle_stage_term:
      preferred_term: adult parasitic worm stage
      term:
        id: OPL:0000237
        label: adult parasitic worm stage
    description: Larvae transmitted by black flies develop into adult filariae in human hosts.
    evidence:
    - reference: PMID:16714198
      reference_title: "Onchocerciasis--river blindness."
      supports: SUPPORT
      snippet: "Onchocerciasis is spread by bites from infested black flies, which transmit larvae that subsequently develop into adult filariae."
      explanation: The abstract describes larval transmission and development to adult filariae.
transmission:
- name: Black fly bite transmission
  description: Infested black flies transmit larvae through bites.
  evidence:
  - reference: PMID:16714198
    reference_title: "Onchocerciasis--river blindness."
    supports: SUPPORT
    snippet: "Onchocerciasis is spread by bites from infested black flies"
    explanation: The abstract specifies black fly bite transmission.
phenotypes:
- name: Pruritus
  category: Dermatologic
  frequency: VERY_FREQUENT
  phenotype_term:
    preferred_term: Pruritus
    term:
      id: HP:0000989
      label: Pruritus
  evidence:
  - reference: PMID:16714198
    reference_title: "Onchocerciasis--river blindness."
    supports: SUPPORT
    snippet: "Skin symptoms are commonly nonspecific and include severe pruritus, acute and chronic dermatitis"
    explanation: Severe pruritus is a common skin symptom of onchocerciasis.
- name: Dermatitis
  category: Dermatologic
  frequency: VERY_FREQUENT
  phenotype_term:
    preferred_term: Eczematoid dermatitis
    term:
      id: HP:0000964
      label: Eczematoid dermatitis
  evidence:
  - reference: PMID:16714198
    reference_title: "Onchocerciasis--river blindness."
    supports: SUPPORT
    snippet: "Skin symptoms are commonly nonspecific and include severe pruritus, acute and chronic dermatitis"
    explanation: Dermatitis is listed among common skin symptoms.
- name: Blindness
  category: Ophthalmologic
  frequency: OCCASIONAL
  phenotype_term:
    preferred_term: Blindness
    term:
      id: HP:0000618
      label: Blindness
  evidence:
  - reference: PMID:16714198
    reference_title: "Onchocerciasis--river blindness."
    supports: SUPPORT
    snippet: "Onchocercal ocular disease covers a large spectrum of manifestations, which in severe cases, may lead to blindness."
    explanation: Severe ocular disease can lead to blindness.
treatments:
- name: Ivermectin therapy
  description: Ivermectin is the drug of choice for skin and ocular manifestations.
  treatment_term:
    preferred_term: Pharmacotherapy
    term:
      id: NCIT:C15986
      label: Pharmacotherapy
  evidence:
  - reference: PMID:16714198
    reference_title: "Onchocerciasis--river blindness."
    supports: SUPPORT
    snippet: "Ivermectin is, at present, the drug of choice for skin and ocular manifestations."
    explanation: The abstract identifies ivermectin as the drug of choice.
references:
- reference: DOI:10.1016/j.heliyon.2024.e37537
  title: Epidemiology of epilepsy in Wulu County, an onchocerciasis-endemic area in South Sudan
  found_in:
  - Onchocerciasis-deep-research-falcon.md
  findings:
  - statement: Epidemiology of epilepsy in Wulu County, an onchocerciasis-endemic area in South Sudan
    supporting_text: Epidemiology of epilepsy in Wulu County, an onchocerciasis-endemic area in South Sudan
- reference: DOI:10.1038/s41467-024-50582-9
  title: Modelling onchocerciasis-associated epilepsy and the impact of ivermectin treatment on its prevalence and incidence
  found_in:
  - Onchocerciasis-deep-research-falcon.md
  findings:
  - statement: Retrospective cohort studies in Cameroon found an association between Onchocerca volvulus microfilarial load in childhood (measured in 1991–1993) and risk of developing epilepsy later in life (measured in 2017).
    supporting_text: Retrospective cohort studies in Cameroon found an association between Onchocerca volvulus microfilarial load in childhood (measured in 1991–1993) and risk of developing epilepsy later in life (measured in 2017).
    evidence:
    - reference: DOI:10.1038/s41467-024-50582-9
      reference_title: Modelling onchocerciasis-associated epilepsy and the impact of ivermectin treatment on its prevalence and incidence
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Retrospective cohort studies in Cameroon found an association between Onchocerca volvulus microfilarial load in childhood (measured in 1991–1993) and risk of developing epilepsy later in life (measured in 2017).
      explanation: Deep research cited this publication as relevant literature for Onchocerciasis.
- reference: DOI:10.1038/s43856-026-01464-2
  title: Modelling of onchocerciasis-associated skin and ocular disease and the impact of ivermectin treatment
  found_in:
  - Onchocerciasis-deep-research-falcon.md
  findings:
  - statement: Despite decades of control interventions in sub-Saharan Africa, morbidity associated with Onchocerca volvulus infection still exerts a substantial burden of disease, arising from cutaneous, ocular and neurological manifestations.
    supporting_text: Despite decades of control interventions in sub-Saharan Africa, morbidity associated with Onchocerca volvulus infection still exerts a substantial burden of disease, arising from cutaneous, ocular and neurological manifestations.
    evidence:
    - reference: DOI:10.1038/s43856-026-01464-2
      reference_title: Modelling of onchocerciasis-associated skin and ocular disease and the impact of ivermectin treatment
      supports: SUPPORT
      evidence_source: OTHER
      snippet: Despite decades of control interventions in sub-Saharan Africa, morbidity associated with Onchocerca volvulus infection still exerts a substantial burden of disease, arising from cutaneous, ocular and neurological manifestations.
      explanation: Deep research cited this publication as relevant literature for Onchocerciasis.
- reference: DOI:10.1093/ofid/ofae240
  title: 'Safety and Short-term Efficacy of a Single Dose of 2 mg Moxidectin in <i>Loa loa</i>–Infected Individuals: A Double-Blind, Randomized Ivermectin-Controlled Trial With Ascending Microfilarial Densities'
  found_in:
  - Onchocerciasis-deep-research-falcon.md
  findings:
  - statement: In 2018, the US Food and Drug Administration approved the macrocylic lactone moxidectin (MOX) at 8 mg dosage for onchocerciasis treatment in individuals aged ≥12 years.
    supporting_text: In 2018, the US Food and Drug Administration approved the macrocylic lactone moxidectin (MOX) at 8 mg dosage for onchocerciasis treatment in individuals aged ≥12 years.
    evidence:
    - reference: DOI:10.1093/ofid/ofae240
      reference_title: 'Safety and Short-term Efficacy of a Single Dose of 2 mg Moxidectin in <i>Loa loa</i>–Infected Individuals: A Double-Blind, Randomized Ivermectin-Controlled Trial With Ascending Microfilarial Densities'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: In 2018, the US Food and Drug Administration approved the macrocylic lactone moxidectin (MOX) at 8 mg dosage for onchocerciasis treatment in individuals aged ≥12 years.
      explanation: Deep research cited this publication as relevant literature for Onchocerciasis.
- reference: DOI:10.1098/rstb.2022.0277
  title: Can mass drug administration of moxidectin accelerate onchocerciasis elimination in Africa?
  found_in:
  - Onchocerciasis-deep-research-falcon.md
  findings:
  - statement: Can mass drug administration of moxidectin accelerate onchocerciasis elimination in Africa?
    supporting_text: Epidemiological and modelling studies suggest that elimination of Onchocerca volvulus transmission (EoT) throughout Africa may not be achievable with annual mass drug administration (MDA) of ivermectin alone, particularly in areas of high endemicity and vector density.
    evidence:
    - reference: DOI:10.1098/rstb.2022.0277
      reference_title: Can mass drug administration of moxidectin accelerate onchocerciasis elimination in Africa?
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Epidemiological and modelling studies suggest that elimination of Onchocerca volvulus transmission (EoT) throughout Africa may not be achievable with annual mass drug administration (MDA) of ivermectin alone, particularly in areas of high endemicity and vector density.
      explanation: Deep research cited this publication as relevant literature for Onchocerciasis.
- reference: DOI:10.1101/2024.05.07.24306977
  title: Usability, acceptability and cost of the SD BIOLINE Ov16 rapid diagnostic test for onchocerciasis surveillance in endemic communities in the middle belt of Ghana
  found_in:
  - Onchocerciasis-deep-research-falcon.md
  findings:
  - statement: Previous studies in the Bono Region (middle belt) of Ghana have reported persistent Onchocerca volvulus infection and associated morbidities after nearly three decades of ivermectin treatment.
    supporting_text: Previous studies in the Bono Region (middle belt) of Ghana have reported persistent Onchocerca volvulus infection and associated morbidities after nearly three decades of ivermectin treatment.
    evidence:
    - reference: DOI:10.1101/2024.05.07.24306977
      reference_title: Usability, acceptability and cost of the SD BIOLINE Ov16 rapid diagnostic test for onchocerciasis surveillance in endemic communities in the middle belt of Ghana
      supports: SUPPORT
      evidence_source: OTHER
      snippet: Previous studies in the Bono Region (middle belt) of Ghana have reported persistent Onchocerca volvulus infection and associated morbidities after nearly three decades of ivermectin treatment.
      explanation: Deep research cited this publication as relevant literature for Onchocerciasis.
- reference: DOI:10.1186/s13071-023-06087-3
  title: 'Onchocerca volvulus microfilariae in the anterior chambers of the eye and ocular adverse events after a single dose of 8 mg moxidectin or 150 µg/kg ivermectin: results of a randomized double-blind Phase 3 trial in the Democratic Republic of the Congo, Ghana and Liberia'
  found_in:
  - Onchocerciasis-deep-research-falcon.md
  findings:
  - statement: 'After ivermectin became available, diethylcarbamazine (DEC) use was discontinued because of severe adverse reactions, including ocular reactions, in individuals with high Onchocerca volvulus microfilaridermia (microfilariae/mg skin, SmfD).'
    supporting_text: After ivermectin became available, diethylcarbamazine (DEC) use was discontinued because of severe adverse reactions, including ocular reactions, in individuals with high Onchocerca volvulus microfilaridermia (microfilariae/mg skin, SmfD).
    evidence:
    - reference: DOI:10.1186/s13071-023-06087-3
      reference_title: 'Onchocerca volvulus microfilariae in the anterior chambers of the eye and ocular adverse events after a single dose of 8 mg moxidectin or 150 µg/kg ivermectin: results of a randomized double-blind Phase 3 trial in the Democratic Republic of the Congo, Ghana and Liberia'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: After ivermectin became available, diethylcarbamazine (DEC) use was discontinued because of severe adverse reactions, including ocular reactions, in individuals with high Onchocerca volvulus microfilaridermia (microfilariae/mg skin, SmfD).
      explanation: Deep research cited this publication as relevant literature for Onchocerciasis.
- reference: DOI:10.1371/journal.pntd.0011320
  title: 'Onchocerciasis-associated epilepsy in Maridi, South Sudan: Modelling and exploring the impact of control measures against river blindness'
  found_in:
  - Onchocerciasis-deep-research-falcon.md
  findings:
  - statement: Onchocerciasis, also known as “river blindness”, is caused by the bite of infected female blackflies (genusSimuliidae) that transmit the parasiteOnchocerca volvulus.
    supporting_text: Onchocerciasis, also known as “river blindness”, is caused by the bite of infected female blackflies (genusSimuliidae) that transmit the parasiteOnchocerca volvulus.
    evidence:
    - reference: DOI:10.1371/journal.pntd.0011320
      reference_title: 'Onchocerciasis-associated epilepsy in Maridi, South Sudan: Modelling and exploring the impact of control measures against river blindness'
      supports: SUPPORT
      evidence_source: OTHER
      snippet: Onchocerciasis, also known as “river blindness”, is caused by the bite of infected female blackflies (genusSimuliidae) that transmit the parasiteOnchocerca volvulus.
      explanation: Deep research cited this publication as relevant literature for Onchocerciasis.
- reference: DOI:10.1371/journal.pntd.0013244
  title: 'High epilepsy prevalence and excess mortality in onchocerciasis-endemic counties of South Sudan: A call for integrated interventions'
  found_in:
  - Onchocerciasis-deep-research-falcon.md
  findings:
  - statement: Epilepsy is a major health concern in onchocerciasis-endemic regions with intense transmission, where the infection is associated with a high epilepsy burden.
    supporting_text: Epilepsy is a major health concern in onchocerciasis-endemic regions with intense transmission, where the infection is associated with a high epilepsy burden.
    evidence:
    - reference: DOI:10.1371/journal.pntd.0013244
      reference_title: 'High epilepsy prevalence and excess mortality in onchocerciasis-endemic counties of South Sudan: A call for integrated interventions'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Epilepsy is a major health concern in onchocerciasis-endemic regions with intense transmission, where the infection is associated with a high epilepsy burden.
      explanation: Deep research cited this publication as relevant literature for Onchocerciasis.
- reference: DOI:10.21203/rs.3.rs-2764415/v1
  title: 'Effect of onchocerciasis elimination measures on the incidence of epilepsy in Maridi, South Sudan: a three-year prospective study'
  found_in:
  - Onchocerciasis-deep-research-falcon.md
  findings:
  - statement: High onchocerciasis transmission predisposes endemic communities to a high epilepsy burden.
    supporting_text: High onchocerciasis transmission predisposes endemic communities to a high epilepsy burden.
    evidence:
    - reference: DOI:10.21203/rs.3.rs-2764415/v1
      reference_title: 'Effect of onchocerciasis elimination measures on the incidence of epilepsy in Maridi, South Sudan: a three-year prospective study'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: High onchocerciasis transmission predisposes endemic communities to a high epilepsy burden.
      explanation: Deep research cited this publication as relevant literature for Onchocerciasis.
- reference: DOI:10.3389/fitd.2023.1126173
  title: Filariasis research – from basic research to drug development and novel diagnostics, over a decade of research at the Institute for Medical Microbiology, Immunology and Parasitology, Bonn, Germany
  found_in:
  - Onchocerciasis-deep-research-falcon.md
  findings:
  - statement: Filariae are vector borne parasitic nematodes, endemic in tropical and subtropical regions causing avoidable infections ranging from asymptomatic to stigmatizing and disfiguring disease.
    supporting_text: Filariae are vector borne parasitic nematodes, endemic in tropical and subtropical regions causing avoidable infections ranging from asymptomatic to stigmatizing and disfiguring disease.
    evidence:
    - reference: DOI:10.3389/fitd.2023.1126173
      reference_title: Filariasis research – from basic research to drug development and novel diagnostics, over a decade of research at the Institute for Medical Microbiology, Immunology and Parasitology, Bonn, Germany
      supports: SUPPORT
      evidence_source: OTHER
      snippet: Filariae are vector borne parasitic nematodes, endemic in tropical and subtropical regions causing avoidable infections ranging from asymptomatic to stigmatizing and disfiguring disease.
      explanation: Deep research cited this publication as relevant literature for Onchocerciasis.
- reference: DOI:10.3390/pathogens13080671
  title: 'The Interruption of Transmission of Onchocerciasis in Abia, Anambra, Enugu, and Imo States, Nigeria: The Largest Global Onchocerciasis Stop-Treatment Decision to Date'
  found_in:
  - Onchocerciasis-deep-research-falcon.md
  findings:
  - statement: Onchocerciasis causes severe morbidity in sub-Saharan Africa.
    supporting_text: Onchocerciasis causes severe morbidity in sub-Saharan Africa.
    evidence:
    - reference: DOI:10.3390/pathogens13080671
      reference_title: 'The Interruption of Transmission of Onchocerciasis in Abia, Anambra, Enugu, and Imo States, Nigeria: The Largest Global Onchocerciasis Stop-Treatment Decision to Date'
      supports: SUPPORT
      evidence_source: OTHER
      snippet: Onchocerciasis causes severe morbidity in sub-Saharan Africa.
      explanation: Deep research cited this publication as relevant literature for Onchocerciasis.
- reference: DOI:10.3390/tropicalmed9090207
  title: 'Effects of Five Years of Treatment of Onchocerciasis with Ivermectin under Community Guidelines in Resurgent Areas of Burkina Faso: A before-and-after Analysis'
  found_in:
  - Onchocerciasis-deep-research-falcon.md
  findings:
  - statement: Almost the entire country of Burkina Faso was endemic to onchocerciasis.
    supporting_text: Almost the entire country of Burkina Faso was endemic to onchocerciasis.
    evidence:
    - reference: DOI:10.3390/tropicalmed9090207
      reference_title: 'Effects of Five Years of Treatment of Onchocerciasis with Ivermectin under Community Guidelines in Resurgent Areas of Burkina Faso: A before-and-after Analysis'
      supports: SUPPORT
      evidence_source: OTHER
      snippet: Almost the entire country of Burkina Faso was endemic to onchocerciasis.
      explanation: Deep research cited this publication as relevant literature for Onchocerciasis.
- reference: DOI:10.64898/2026.01.20.26344416
  title: Assessing diagnostic accuracy of Ov16 rapid diagnostic tests for onchocerciasis using Bayesian latent class models
  found_in:
  - Onchocerciasis-deep-research-falcon.md
  findings:
  - statement: Onchocerciasis elimination programs increasingly rely on tests that detect antibodies to the Ov16 antigen, yet the performance of currently available rapid tests remains uncertain.
    supporting_text: Onchocerciasis elimination programs increasingly rely on tests that detect antibodies to the Ov16 antigen, yet the performance of currently available rapid tests remains uncertain.
    evidence:
    - reference: DOI:10.64898/2026.01.20.26344416
      reference_title: Assessing diagnostic accuracy of Ov16 rapid diagnostic tests for onchocerciasis using Bayesian latent class models
      supports: SUPPORT
      evidence_source: OTHER
      snippet: Onchocerciasis elimination programs increasingly rely on tests that detect antibodies to the Ov16 antigen, yet the performance of currently available rapid tests remains uncertain.
      explanation: Deep research cited this publication as relevant literature for Onchocerciasis.
📚

References & Deep Research

References

14
Epidemiology of epilepsy in Wulu County, an onchocerciasis-endemic area in South Sudan
1 finding
Epidemiology of epilepsy in Wulu County, an onchocerciasis-endemic area in South Sudan
"Epidemiology of epilepsy in Wulu County, an onchocerciasis-endemic area in South Sudan"
Modelling onchocerciasis-associated epilepsy and the impact of ivermectin treatment on its prevalence and incidence
1 finding
Retrospective cohort studies in Cameroon found an association between Onchocerca volvulus microfilarial load in childhood (measured in 1991–1993) and risk of developing epilepsy later in life (measured in 2017).
"Retrospective cohort studies in Cameroon found an association between Onchocerca volvulus microfilarial load in childhood (measured in 1991–1993) and risk of developing epilepsy later in life (measured in 2017)."
Show evidence (1 reference)
DOI:10.1038/s41467-024-50582-9 SUPPORT Human Clinical
"Retrospective cohort studies in Cameroon found an association between Onchocerca volvulus microfilarial load in childhood (measured in 1991–1993) and risk of developing epilepsy later in life (measured in 2017)."
Deep research cited this publication as relevant literature for Onchocerciasis.
Modelling of onchocerciasis-associated skin and ocular disease and the impact of ivermectin treatment
1 finding
Despite decades of control interventions in sub-Saharan Africa, morbidity associated with Onchocerca volvulus infection still exerts a substantial burden of disease, arising from cutaneous, ocular and neurological manifestations.
"Despite decades of control interventions in sub-Saharan Africa, morbidity associated with Onchocerca volvulus infection still exerts a substantial burden of disease, arising from cutaneous, ocular and neurological manifestations."
Show evidence (1 reference)
"Despite decades of control interventions in sub-Saharan Africa, morbidity associated with Onchocerca volvulus infection still exerts a substantial burden of disease, arising from cutaneous, ocular and neurological manifestations."
Deep research cited this publication as relevant literature for Onchocerciasis.
Safety and Short-term Efficacy of a Single Dose of 2 mg Moxidectin in <i>Loa loa</i>–Infected Individuals: A Double-Blind, Randomized Ivermectin-Controlled Trial With Ascending Microfilarial Densities
1 finding
In 2018, the US Food and Drug Administration approved the macrocylic lactone moxidectin (MOX) at 8 mg dosage for onchocerciasis treatment in individuals aged ≥12 years.
"In 2018, the US Food and Drug Administration approved the macrocylic lactone moxidectin (MOX) at 8 mg dosage for onchocerciasis treatment in individuals aged ≥12 years."
Show evidence (1 reference)
DOI:10.1093/ofid/ofae240 SUPPORT Human Clinical
"In 2018, the US Food and Drug Administration approved the macrocylic lactone moxidectin (MOX) at 8 mg dosage for onchocerciasis treatment in individuals aged ≥12 years."
Deep research cited this publication as relevant literature for Onchocerciasis.
Can mass drug administration of moxidectin accelerate onchocerciasis elimination in Africa?
1 finding
Can mass drug administration of moxidectin accelerate onchocerciasis elimination in Africa?
"Epidemiological and modelling studies suggest that elimination of Onchocerca volvulus transmission (EoT) throughout Africa may not be achievable with annual mass drug administration (MDA) of ivermectin alone, particularly in areas of high endemicity and vector density."
Show evidence (1 reference)
DOI:10.1098/rstb.2022.0277 SUPPORT Human Clinical
"Epidemiological and modelling studies suggest that elimination of Onchocerca volvulus transmission (EoT) throughout Africa may not be achievable with annual mass drug administration (MDA) of ivermectin alone, particularly in areas of high endemicity and vector density."
Deep research cited this publication as relevant literature for Onchocerciasis.
Usability, acceptability and cost of the SD BIOLINE Ov16 rapid diagnostic test for onchocerciasis surveillance in endemic communities in the middle belt of Ghana
1 finding
Previous studies in the Bono Region (middle belt) of Ghana have reported persistent Onchocerca volvulus infection and associated morbidities after nearly three decades of ivermectin treatment.
"Previous studies in the Bono Region (middle belt) of Ghana have reported persistent Onchocerca volvulus infection and associated morbidities after nearly three decades of ivermectin treatment."
Show evidence (1 reference)
"Previous studies in the Bono Region (middle belt) of Ghana have reported persistent Onchocerca volvulus infection and associated morbidities after nearly three decades of ivermectin treatment."
Deep research cited this publication as relevant literature for Onchocerciasis.
Onchocerca volvulus microfilariae in the anterior chambers of the eye and ocular adverse events after a single dose of 8 mg moxidectin or 150 µg/kg ivermectin: results of a randomized double-blind Phase 3 trial in the Democratic Republic of the Congo, Ghana and Liberia
1 finding
After ivermectin became available, diethylcarbamazine (DEC) use was discontinued because of severe adverse reactions, including ocular reactions, in individuals with high Onchocerca volvulus microfilaridermia (microfilariae/mg skin, SmfD).
"After ivermectin became available, diethylcarbamazine (DEC) use was discontinued because of severe adverse reactions, including ocular reactions, in individuals with high Onchocerca volvulus microfilaridermia (microfilariae/mg skin, SmfD)."
Show evidence (1 reference)
DOI:10.1186/s13071-023-06087-3 SUPPORT Human Clinical
"After ivermectin became available, diethylcarbamazine (DEC) use was discontinued because of severe adverse reactions, including ocular reactions, in individuals with high Onchocerca volvulus microfilaridermia (microfilariae/mg skin, SmfD)."
Deep research cited this publication as relevant literature for Onchocerciasis.
Onchocerciasis-associated epilepsy in Maridi, South Sudan: Modelling and exploring the impact of control measures against river blindness
1 finding
Onchocerciasis, also known as “river blindness”, is caused by the bite of infected female blackflies (genusSimuliidae) that transmit the parasiteOnchocerca volvulus.
"Onchocerciasis, also known as “river blindness”, is caused by the bite of infected female blackflies (genusSimuliidae) that transmit the parasiteOnchocerca volvulus."
Show evidence (1 reference)
"Onchocerciasis, also known as “river blindness”, is caused by the bite of infected female blackflies (genusSimuliidae) that transmit the parasiteOnchocerca volvulus."
Deep research cited this publication as relevant literature for Onchocerciasis.
High epilepsy prevalence and excess mortality in onchocerciasis-endemic counties of South Sudan: A call for integrated interventions
1 finding
Epilepsy is a major health concern in onchocerciasis-endemic regions with intense transmission, where the infection is associated with a high epilepsy burden.
"Epilepsy is a major health concern in onchocerciasis-endemic regions with intense transmission, where the infection is associated with a high epilepsy burden."
Show evidence (1 reference)
DOI:10.1371/journal.pntd.0013244 SUPPORT Human Clinical
"Epilepsy is a major health concern in onchocerciasis-endemic regions with intense transmission, where the infection is associated with a high epilepsy burden."
Deep research cited this publication as relevant literature for Onchocerciasis.
Effect of onchocerciasis elimination measures on the incidence of epilepsy in Maridi, South Sudan: a three-year prospective study
1 finding
High onchocerciasis transmission predisposes endemic communities to a high epilepsy burden.
"High onchocerciasis transmission predisposes endemic communities to a high epilepsy burden."
Show evidence (1 reference)
DOI:10.21203/rs.3.rs-2764415/v1 SUPPORT Human Clinical
"High onchocerciasis transmission predisposes endemic communities to a high epilepsy burden."
Deep research cited this publication as relevant literature for Onchocerciasis.
Filariasis research – from basic research to drug development and novel diagnostics, over a decade of research at the Institute for Medical Microbiology, Immunology and Parasitology, Bonn, Germany
1 finding
Filariae are vector borne parasitic nematodes, endemic in tropical and subtropical regions causing avoidable infections ranging from asymptomatic to stigmatizing and disfiguring disease.
"Filariae are vector borne parasitic nematodes, endemic in tropical and subtropical regions causing avoidable infections ranging from asymptomatic to stigmatizing and disfiguring disease."
Show evidence (1 reference)
"Filariae are vector borne parasitic nematodes, endemic in tropical and subtropical regions causing avoidable infections ranging from asymptomatic to stigmatizing and disfiguring disease."
Deep research cited this publication as relevant literature for Onchocerciasis.
The Interruption of Transmission of Onchocerciasis in Abia, Anambra, Enugu, and Imo States, Nigeria: The Largest Global Onchocerciasis Stop-Treatment Decision to Date
1 finding
Onchocerciasis causes severe morbidity in sub-Saharan Africa.
"Onchocerciasis causes severe morbidity in sub-Saharan Africa."
Show evidence (1 reference)
"Onchocerciasis causes severe morbidity in sub-Saharan Africa."
Deep research cited this publication as relevant literature for Onchocerciasis.
Effects of Five Years of Treatment of Onchocerciasis with Ivermectin under Community Guidelines in Resurgent Areas of Burkina Faso: A before-and-after Analysis
1 finding
Almost the entire country of Burkina Faso was endemic to onchocerciasis.
"Almost the entire country of Burkina Faso was endemic to onchocerciasis."
Show evidence (1 reference)
"Almost the entire country of Burkina Faso was endemic to onchocerciasis."
Deep research cited this publication as relevant literature for Onchocerciasis.
Assessing diagnostic accuracy of Ov16 rapid diagnostic tests for onchocerciasis using Bayesian latent class models
1 finding
Onchocerciasis elimination programs increasingly rely on tests that detect antibodies to the Ov16 antigen, yet the performance of currently available rapid tests remains uncertain.
"Onchocerciasis elimination programs increasingly rely on tests that detect antibodies to the Ov16 antigen, yet the performance of currently available rapid tests remains uncertain."
Show evidence (1 reference)
"Onchocerciasis elimination programs increasingly rely on tests that detect antibodies to the Ov16 antigen, yet the performance of currently available rapid tests remains uncertain."
Deep research cited this publication as relevant literature for Onchocerciasis.

Deep Research

1
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Disease Characteristics Research Template
Edison Scientific Literature 55 citations 2026-04-04T15:46:25.199445

Question: You are an expert researcher providing comprehensive, well-cited information.

Provide detailed information focusing on: 1. Key concepts and definitions with current understanding 2. Recent developments and latest research (prioritize 2023-2024 sources) 3. Current applications and real-world implementations 4. Expert opinions and analysis from authoritative sources 5. Relevant statistics and data from recent studies

Format as a comprehensive research report with proper citations. Include URLs and publication dates where available. Always prioritize recent, authoritative sources and provide specific citations for all major claims.

Disease Characteristics Research Template

Target Disease

  • Disease Name: Onchocerciasis
  • MONDO ID: (if available)
  • Category: Infectious Disease

Research Objectives

Please provide a comprehensive research report on Onchocerciasis covering all of the disease characteristics listed below. This report will be used to populate a disease knowledge base entry. Be thorough and cite primary literature (PMID preferred) for all claims.

For each section, suggested databases/resources are listed. These are the first places you should search for information on each topic.


1. Disease Information

Search first: OMIM, Orphanet, ICD-10/ICD-11, MeSH, PubMed

  • What is the disease? Provide a concise overview.
  • What are the key identifiers? (OMIM, Orphanet, ICD-10/ICD-11, MeSH, Mondo)
  • What are the common synonyms and alternative names?
  • Is the information derived from individual patients (e.g., EHR) or aggregated disease-level resources?

2. Etiology

  • Disease Causal Factors: What are the primary causes? (genetic, environmental, infectious, mechanistic)
  • Risk Factors:

    Search first: PubMed, Cochrane Library, UpToDate, clinical guidelines, ClinVar, ClinGen, GWAS Catalog, PheGenI, CTD, CDC, WHO, epidemiological databases

  • Genetic risk factors (causal variants, susceptibility loci, modifier genes)
  • Environmental risk factors (toxins, lifestyle, occupational exposures, age, sex, family history)
  • Protective Factors:

    Search first: PubMed, Cochrane Library, clinical trial databases, GWAS Catalog, gnomAD, WHO, CDC, nutrition databases

  • Genetic protective factors (protective variants, modifier alleles)
  • Environmental protective factors (diet, lifestyle, exposures that reduce risk)
  • Gene-Environment Interactions: How do genetic and environmental factors interact to influence disease?

    Search first: CTD, PubMed, PheGenI, GxE databases

3. Phenotypes

Search first: HPO (Human Phenotype Ontology), OMIM, Orphanet, PubMed, clinicaltrials.gov, MedDRA, SNOMED CT, DECIPHER, LOINC

For each phenotype, provide: - Phenotype type: symptoms, clinical signs, physical manifestations, behavioral changes, or laboratory abnormalities

For symptoms/signs: HPO, OMIM, Orphanet, PubMed For behavioral changes: HPO, DSM, RDoC (Research Domain Criteria), PubMed For laboratory abnormalities: LOINC, SNOMED CT, LabTests Online, PubMed - Phenotype characteristics: Search first: OMIM, Orphanet, HPO, PubMed - Age of symptom onset (neonatal, childhood, adult-onset, late-onset) - Symptom severity (mild, moderate, severe, variable) - Symptom progression (stable, progressive, episodic, fluctuating) - Frequency among affected individuals (percentage or qualitative) - Quality of life impact: Effects on daily functioning and well-being (per-phenotype when possible) Search first: EQ-5D database, SF-36, WHO QOL databases, PubMed - Suggest HPO (Human Phenotype Ontology) terms for each phenotype

4. Genetic/Molecular Information

  • Causal Genes: Gene mutations or chromosomal abnormalities responsible for disease (gene symbols, OMIM IDs)

    Search first: OMIM, ClinVar, HGMD, Ensembl, NCBI Gene

  • Pathogenic Variants:
  • Affected genes (gene symbols, HGNC IDs) > Search first: OMIM, NCBI Gene, Ensembl, HGNC, UniProt, GeneCards
  • Variant classification (pathogenic, likely pathogenic, VUS per ACMG/AMP guidelines) > Search first: ClinVar, ClinGen, ACMG/AMP guidelines, VarSome
  • Variant type/class (missense, frameshift, nonsense, splice-site, structural)
  • Allele frequency in population databases > Search first: gnomAD, 1000 Genomes, ExAC, TOPMed, dbSNP
  • Somatic vs germline origin > Search first: COSMIC (somatic), ClinVar, ICGC, TCGA
  • Functional consequences (loss of function, gain of function, dominant negative)
  • Modifier Genes: Genes that modify disease severity or expression
  • Epigenetic Information: DNA methylation, histone modifications, chromatin changes affecting disease

    Search first: ENCODE, Roadmap Epigenomics, MethBase, DiseaseMeth

  • Chromosomal Abnormalities: Large-scale genetic changes (aneuploidy, translocations, inversions)

    Search first: DECIPHER, ClinVar, ECARUCA, UCSC Genome Browser

5. Environmental Information

  • Environmental Factors: Non-genetic contributing factors (toxins, radiation, pollution, occupational exposure)

    Search first: CTD (Comparative Toxicogenomics Database), TOXNET, PubMed, EPA databases

  • Lifestyle Factors: Behavioral factors (smoking, diet, exercise, alcohol consumption)

    Search first: CDC databases, WHO, PubMed, NHANES

  • Infectious Agents: If applicable, pathogens causing or triggering disease (bacteria, viruses, fungi, parasites)

    Search first: NCBI Taxonomy, ViPR, BV-BRC, MicrobeDB, GIDEON

6. Mechanism / Pathophysiology

  • Molecular Pathways: Specific signaling cascades or biochemical pathways involved (Wnt, MAPK, mTOR, PI3K-AKT, etc.)

    Search first: KEGG, Reactome, WikiPathways, PathBank, BioCyc

  • Cellular Processes: Cell-level mechanisms (apoptosis, autophagy, cell cycle dysregulation, inflammation, etc.)

    Search first: Gene Ontology (GO), Reactome, KEGG, PubMed

  • Protein Dysfunction: How protein structure or function is altered (misfolding, aggregation, loss of function, gain of function)

    Search first: UniProt, PDB (Protein Data Bank), InterPro, Pfam, AlphaFold

  • Metabolic Changes: Alterations in metabolic processes (energy metabolism, lipid metabolism, amino acid metabolism)

    Search first: KEGG, BioCyc, HMDB (Human Metabolome Database), BRENDA

  • Immune System Involvement: Role of immune response (autoimmunity, immunodeficiency, chronic inflammation)

    Search first: ImmPort, Immunome Database, IEDB, Gene Ontology

  • Tissue Damage Mechanisms: How tissues/ are injured (oxidative stress, ischemia, fibrosis, necrosis)

    Search first: PubMed, Gene Ontology, Reactome

  • Biochemical Abnormalities: Specific molecular defects (enzyme deficiencies, receptor dysfunction, ion channel defects)

    Search first: BRENDA, UniProt, KEGG, OMIM, PubMed

  • Epigenetic Changes: DNA methylation, histone modifications affecting gene expression in disease

    Search first: ENCODE, Roadmap Epigenomics, MethBase, DiseaseMeth

  • Molecular Profiling (if available):
  • Transcriptomics/gene expression changes > Search first: GEO (Gene Expression Omnibus), ArrayExpress, GTEx, Human Cell Atlas, SRA
  • Proteomics findings > Search first: PRIDE, ProteomeXchange, Human Protein Atlas, STRING, BioGRID
  • Metabolomics signatures > Search first: MetaboLights, Metabolomics Workbench, HMDB, METLIN
  • Lipidomics alterations > Search first: LIPID MAPS, SwissLipids, LipidHome, Metabolomics Workbench
  • Genomic structural features > Search first: UCSC Genome Browser, Ensembl, NCBI, dbVar, DGV
  • Advanced Technologies (if applicable):
  • Single-cell analysis findings (cell-type specific mechanisms, cellular heterogeneity) > Search first: Human Cell Atlas, Single Cell Portal, GEO, CELLxGENE
  • Spatial transcriptomics findings > Search first: GEO, Spatial Research, Vizgen, 10x Genomics data
  • Multi-omics integration results > Search first: TCGA, ICGC, cBioPortal, LinkedOmics, PubMed
  • Functional genomics screens (CRISPR, RNAi) > Search first: DepMap, GenomeRNAi, PubMed, BioGRID ORCS

For each mechanism, describe: - The causal chain from initial trigger to clinical manifestation - Which mechanisms are upstream vs downstream - What cell types and biological processes are involved - Suggest GO terms for biological processes and CL terms for cell types

7. Anatomical Structures Affected

  • Organ Level:
  • Primary organs directly affected
  • Secondary organ involvement (complications, secondary effects)
  • Body systems involved (cardiovascular, nervous, digestive, respiratory, endocrine, etc.)

    Search first: Uberon, FMA (Foundational Model of Anatomy), OMIM, HPO, ICD-11, MeSH, SNOMED CT

  • Tissue and Cell Level:
  • Specific tissue types affected (epithelial, connective, muscle, nervous)
  • Specific cell populations targeted (with Cell Ontology terms)

    Search first: Uberon, Human Protein Atlas, Cell Ontology, Human Cell Atlas, CellMarker, PanglaoDB

  • Subcellular Level:
  • Cellular compartments involved (mitochondria, nucleus, ER, lysosomes) (with GO Cellular Component terms)

    Search first: Gene Ontology (Cellular Component), UniProt, Human Protein Atlas

  • Localization:
  • Specific anatomical sites (with UBERON terms) > Search first: FMA, Uberon, NeuroNames (for brain), SNOMED CT
  • Lateralization (unilateral, bilateral, asymmetric) > Search first: HPO, clinical literature, imaging databases

8. Temporal Development

  • Onset:
  • Typical age of onset (congenital, pediatric, adult, geriatric)
  • Onset pattern (acute, subacute, chronic, insidious)

    Search first: OMIM, Orphanet, HPO, PubMed

  • Progression:
  • Disease stages (early, intermediate, advanced, end-stage) > Search first: Cancer Staging Manual (AJCC), WHO classifications, PubMed
  • Progression rate (rapid, slow, variable)
  • Disease course pattern (episodic, relapsing-remitting, progressive, stable)
  • Disease duration (self-limited, chronic lifelong)

    Search first: Disease registries, longitudinal cohort databases, natural history studies, PubMed, Orphanet, OMIM

  • Patterns:
  • Remission patterns (spontaneous, treatment-induced) > Search first: Clinical trial databases, disease registries, PubMed
  • Critical periods (time windows of vulnerability or opportunity for intervention) > Search first: PubMed, developmental biology databases, clinical guidelines

9. Inheritance and Population

  • Epidemiology:
  • Prevalence (cases per 100,000 at given time)
  • Incidence (new cases per 100,000 per year)

    Search first: Orphanet, CDC, WHO, GBD (Global Burden of Disease), national registries, SEER, disease registries

  • For Genetic Etiology:
  • Inheritance pattern (AD, AR, X-linked, mitochondrial, multifactorial, polygenic) > Search first: OMIM, Orphanet, ClinVar, GTR (Genetic Testing Registry)
  • Penetrance (complete, incomplete, age-dependent) > Search first: ClinVar, OMIM, PubMed, ClinGen
  • Expressivity (variable, consistent) > Search first: OMIM, ClinVar, PubMed
  • Genetic anticipation (increasing severity in successive generations) > Search first: OMIM, PubMed (especially for repeat expansion disorders)
  • Germline mosaicism > Search first: ClinVar, OMIM, genetic counseling literature, PubMed
  • Founder effects (population-specific mutations) > Search first: gnomAD, population genetics databases, PubMed
  • Consanguinity role > Search first: OMIM, population studies, genetic counseling resources
  • Carrier frequency > Search first: gnomAD, carrier screening databases, GeneReviews, GTR
  • Population Demographics:
  • Affected populations (ethnic or demographic groups with higher prevalence) > Search first: gnomAD, 1000 Genomes, PAGE Study, PubMed, population registries
  • Geographic distribution (endemic areas, regional variation) > Search first: WHO, CDC, GBD, Orphanet, geographic epidemiology databases
  • Geographic distribution of specific variants
  • Sex ratio (male:female) > Search first: Disease registries, OMIM, PubMed, epidemiological databases
  • Age distribution of affected individuals > Search first: CDC, disease registries, SEER, Orphanet

10. Diagnostics

  • Clinical Tests:
  • Laboratory tests (blood, urine, tissue chemistry, specific enzyme assays) > Search first: LOINC, LabTests Online, PubMed
  • Biomarkers (proteins, metabolites, genetic markers, circulating biomarkers) > Search first: FDA Biomarker List, BEST (Biomarkers, EndpointS, and other Tools), PubMed
  • Imaging studies (X-ray, CT, MRI, PET, ultrasound) > Search first: RadLex, DICOM, Radiopaedia, imaging databases
  • Functional tests (pulmonary function, cardiac stress tests) > Search first: LOINC, clinical guidelines, PubMed
  • Electrophysiology (EEG, EMG, ECG, nerve conduction studies) > Search first: LOINC, clinical neurophysiology databases, PubMed
  • Biopsy findings (histopathology, immunohistochemistry) > Search first: SNOMED CT, College of American Pathologists resources, PubMed
  • Pathology findings (microscopic examination) > Search first: SNOMED CT, Digital Pathology databases, PubMed
  • Genetic Testing:

    Search first: GTR (Genetic Testing Registry), GeneReviews, ClinGen

  • Overview of recommended genetic testing approach
  • Whole genome sequencing (WGS) utility > Search first: GTR, ClinVar, GEL (Genomics England), gnomAD
  • Whole exome sequencing (WES) utility > Search first: GTR, ClinVar, OMIM, GeneMatcher
  • Gene panels (which panels, which genes) > Search first: GTR, ClinVar, laboratory-specific databases
  • Single gene testing > Search first: GTR, ClinVar, OMIM, GeneReviews
  • Chromosomal microarray (CMA) > Search first: DECIPHER, ClinVar, dbVar, ECARUCA
  • Karyotyping > Search first: Chromosome Abnormality Database, ClinVar, cytogenetics resources
  • FISH > Search first: ClinVar, cytogenetics databases, PubMed
  • Mitochondrial DNA testing > Search first: MITOMAP, MSeqDR, ClinVar, GTR
  • Repeat expansion testing > Search first: GTR, ClinVar, repeat expansion databases, PubMed
  • Omics-Based Diagnostics (if applicable):
  • RNA sequencing / transcriptomics > Search first: GEO, ArrayExpress, GTEx, RNA-seq databases
  • Proteomics > Search first: PRIDE, ProteomeXchange, FDA Biomarker database
  • Metabolomics > Search first: MetaboLights, Metabolomics Workbench, HMDB
  • Epigenomics > Search first: GEO, ENCODE, Roadmap Epigenomics, MethBase
  • Liquid biopsy > Search first: COSMIC, ClinVar, liquid biopsy databases, PubMed
  • Clinical Criteria:
  • Standardized diagnostic criteria (DSM, ICD, society guidelines) > Search first: DSM-5, ICD-11, clinical society guidelines, UpToDate
  • Differential diagnosis (other conditions to rule out, with distinguishing features) > Search first: DynaMed, UpToDate, clinical decision support systems
  • Screening:
  • Screening methods for asymptomatic individuals (newborn screening, carrier screening, cascade screening) > Search first: ACMG recommendations, CDC newborn screening, GTR

11. Outcome/Prognosis

  • Survival and Mortality:
  • Survival rate (5-year, 10-year, overall) > Search first: SEER, cancer registries, disease-specific registries, PubMed
  • Life expectancy (with and without treatment if applicable) > Search first: Orphanet, disease registries, actuarial databases, PubMed
  • Mortality rate > Search first: CDC, WHO, GBD, national mortality databases
  • Disease-specific mortality (deaths directly attributable to disease) > Search first: Disease registries, CDC Wonder, GBD, PubMed
  • Morbidity and Function:
  • Morbidity (disease-related disability and health impacts) > Search first: GBD, WHO, disability databases, PubMed
  • Disability outcomes (long-term functional impairments) > Search first: ICF (International Classification of Functioning), disability registries
  • Quality of life measures (EQ-5D, SF-36, PROMIS, disease-specific tools) > Search first: EQ-5D database, SF-36, PROMIS, PubMed
  • Disease Course:
  • Complications (secondary problems: infections, organ failure, etc.) > Search first: ICD codes, disease registries, clinical databases, PubMed
  • Recovery potential (likelihood and extent of recovery, with vs without treatment) > Search first: Natural history studies, rehabilitation databases, PubMed
  • Prediction:
  • Prognostic factors (age, disease severity, biomarkers, treatment response) > Search first: Prognostic models databases, clinical calculators, PubMed
  • Prognostic biomarkers (molecular markers predicting disease course) > Search first: FDA Biomarker database, PubMed, cancer prognostic databases

12. Treatment

  • Pharmacotherapy:
  • Pharmacological treatments (drug names, drug classes, mechanisms of action) > Search first: DrugBank, RxNorm, ATC classification, DailyMed, FDA databases
  • Pharmacogenomics (how genetic variants affect drug metabolism, efficacy, toxicity) > Search first: PharmGKB, CPIC (Clinical Pharmacogenetics), FDA Table of PGx Biomarkers
  • Advanced Therapeutics:
  • Gene therapy (viral vectors, CRISPR, gene replacement, gene editing) > Search first: ClinicalTrials.gov, FDA gene therapy database, ASGCT resources
  • Cell therapy (stem cell transplant, CAR-T, cellular therapeutics) > Search first: ClinicalTrials.gov, FDA cell therapy database, FACT standards
  • RNA-based therapies (ASOs, siRNA, mRNA therapies) > Search first: ClinicalTrials.gov, FDA approvals, PubMed
  • Targeted therapies (treatments directed at specific molecular targets) > Search first: My Cancer Genome, OncoKB, ClinicalTrials.gov, FDA approvals
  • Immunotherapies (checkpoint inhibitors, monoclonal antibodies) > Search first: Cancer Immunotherapy Database, FDA approvals, ClinicalTrials.gov
  • Surgical and Interventional:
  • Surgical interventions (types of surgery, timing, outcomes) > Search first: CPT codes, surgical registries, clinical guidelines, PubMed
  • Supportive and Rehabilitative:
  • Supportive care (symptom management, pain control, nutrition) > Search first: Clinical guidelines, Cochrane Library, PubMed
  • Rehabilitation (physical therapy, occupational therapy, speech therapy) > Search first: Rehabilitation medicine databases, clinical guidelines, PubMed
  • Experimental:
  • Experimental treatments in clinical trials (with NCT identifiers if available) > Search first: ClinicalTrials.gov, EU Clinical Trials Register, WHO ICTRP
  • Treatment Outcomes:
  • Treatment response rates > Search first: Clinical trial databases, FDA reviews, systematic reviews, PubMed
  • Side effects and adverse events > Search first: FDA Adverse Event Reporting System (FAERS), MedWatch, PubMed
  • Treatment Strategy:
  • Treatment algorithms (clinical pathways, decision trees) > Search first: Clinical practice guidelines, NCCN Guidelines, UpToDate
  • Combination therapies > Search first: ClinicalTrials.gov, treatment guidelines, PubMed
  • Personalized medicine approaches (genotype-guided treatment) > Search first: My Cancer Genome, CIViC, PharmGKB, precision medicine databases

For each treatment, suggest MAXO (Medical Action Ontology) terms where applicable.

13. Prevention

  • Prevention Levels:
  • Primary prevention (preventing disease occurrence: vaccination, risk factor modification) > Search first: CDC, WHO, USPSTF recommendations, Cochrane Library
  • Secondary prevention (early detection and treatment: screening programs, early intervention) > Search first: USPSTF, CDC screening guidelines, WHO
  • Tertiary prevention (preventing complications in those with disease) > Search first: Clinical guidelines, disease management protocols, PubMed
  • Immunization: Vaccine strategies (if applicable)

    Search first: CDC vaccine schedules, WHO immunization, FDA vaccine database

  • Screening and Early Detection:
  • Screening programs (population-based: newborn screening, cancer screening) > Search first: CDC screening programs, USPSTF, cancer screening databases
  • Genetic screening (carrier screening, preimplantation genetic diagnosis, prenatal testing) > Search first: ACMG recommendations, ACOG guidelines, GTR
  • Risk stratification (identifying high-risk individuals for targeted prevention) > Search first: Risk prediction models, clinical calculators, PubMed
  • Behavioral Interventions: Lifestyle modifications to reduce risk

    Search first: CDC, WHO, behavioral intervention databases, Cochrane Library

  • Counseling: Genetic counseling (risk assessment, family planning guidance)

    Search first: NSGC resources, ACMG guidelines, GeneReviews

  • Public Health:
  • Public health interventions (sanitation, vector control, health education) > Search first: CDC, WHO, public health databases, PubMed
  • Environmental interventions (reducing environmental risk factors) > Search first: EPA databases, WHO environmental health, PubMed
  • Prophylaxis: Preventive medications or procedures

    Search first: Clinical guidelines, FDA approvals, PubMed

14. Other Species / Natural Disease

  • Taxonomy: Species affected (with NCBI Taxon identifiers)

    Search first: NCBI Taxonomy

  • Breed: Specific breeds affected (with VBO identifiers if applicable)

    Search first: VBO (Vertebrate Breed Ontology)

  • Gene: Orthologous genes in other species (with NCBI Gene IDs)

    Search first: NCBI Gene

  • Natural Disease:
  • Naturally occurring disease in other species (companion animals, wildlife) > Search first: OMIA (Online Mendelian Inheritance in Animals), VetCompass, PubMed
  • Veterinary relevance and importance in animal health > Search first: OMIA, veterinary databases, PubMed
  • Comparative Biology:
  • Comparative pathology (similarities and differences across species) > Search first: OMIA, comparative pathology databases, PubMed
  • Evolutionary conservation of disease mechanisms > Search first: HomoloGene, OrthoMCL, Alliance of Genome Resources
  • Transmission (if applicable):
  • Zoonotic potential > Search first: CDC zoonotic diseases, WHO zoonoses, GIDEON
  • Cross-species susceptibility > Search first: NCBI Taxonomy, veterinary databases, PubMed

15. Model Organisms

  • Model Types:
  • Model organism type (mammalian, invertebrate, cellular, in vitro) > Search first: Alliance of Genome Resources, model organism databases
  • Specific model systems (mouse, rat, zebrafish, Drosophila, C. elegans, yeast, cell lines, organoids, iPSCs) > Search first: MGI, RGD, ZFIN, FlyBase, WormBase, SGD, ATCC, Cellosaurus
  • Induced models (drug treatment, surgical intervention, environmental manipulation) > Search first: MGI, model organism databases, PubMed
  • Genetic Models:
  • Types available (knockout, knock-in, transgenic, conditional, humanized) > Search first: MGI, IMPC, KOMP, EuMMCR, IMSR
  • Model Characteristics:
  • Phenotype recapitulation (how well model reproduces human disease features) > Search first: Model organism databases, comparative studies, PubMed
  • Model limitations (aspects of human disease not captured) > Search first: Model organism databases, PubMed, review articles
  • Applications:
  • Research applications (what aspects of disease can be studied) > Search first: Model organism databases, PubMed
  • Resources:
  • Model databases > Search first: MGI, RGD, ZFIN, FlyBase, WormBase, IMSR, EMMA, MMRRC

Citation Requirements

  • Cite primary literature (PMID preferred) for all mechanistic and clinical claims
  • Prioritize recent reviews and landmark papers
  • Include direct quotes from abstracts where possible to support key statements
  • Distinguish evidence source types: human clinical, model organism, in vitro, computational

Output Format

Structure your response as a comprehensive narrative organized by the sections above. For each section, provide: - Factual content with specific details (numbers, percentages, gene names, variant nomenclature) - Ontology term suggestions (HPO, GO, CL, UBERON, CHEBI, MAXO, MONDO) where applicable - Evidence citations with PMIDs - Direct quotes from abstracts to support key claims - Clear indication when information is not available or not applicable for this disease

This report will be used to populate a disease knowledge base entry with: - Pathophysiology descriptions with causal chains - Gene/protein annotations (HGNC, GO terms) - Phenotype associations (HP terms) with frequencies - Cell type involvement (CL terms) - Anatomical locations (UBERON terms) - Chemical entities (CHEBI terms) - Treatment annotations (MAXO terms) - Evidence items with PMIDs and exact abstract quotes - Epidemiology, prognosis, diagnostic, and prevention information - Animal model descriptions with phenotype recapitulation details

Comprehensive Disease Characteristics Report: Onchocerciasis (River Blindness)

Executive summary (current understanding; 2023–2024 emphasis)

Onchocerciasis is a vector-borne filarial disease caused by Onchocerca volvulus and transmitted by Simulium blackflies. It is classically termed “river blindness” because transmission occurs near fast-flowing rivers where blackflies breed, and ocular inflammation can lead to visual impairment and blindness. Contemporary work emphasizes that the most common clinical burden is often inflammatory/degenerative skin disease (severe pruritus and dermatitis), and that neurological sequelae—especially onchocerciasis-associated epilepsy (OAE) and nodding syndrome—are increasingly recognized as major contributors to disability and premature mortality in high-transmission foci. Recent programmatic advances include large-scale stop–mass drug administration (MDA) decisions using WHO elimination thresholds (Nigeria, effective Jan 2023), while multiple foci show recrudescence or persistent transmission. New tools (more-sensitive Ov16 rapid tests; anti-Wolbachia short-course regimens; moxidectin deployment strategies; and late-stage drug candidates such as emodepside) are being developed to accelerate elimination where ivermectin alone is insufficient. (kamgno2025vectorbornehelminthiasesa pages 24-27, stapley2024modellingonchocerciasisassociatedepilepsy pages 1-2, kura2023canmassdrug pages 1-2, ityonzughul2024theinterruptionof pages 2-5, karunakaran2023filariasisresearch– pages 9-10)


1. Disease information

1.1 Concise overview

Onchocerciasis (“river blindness”) is a neglected tropical disease caused by infection with the filarial nematode Onchocerca volvulus and transmitted to humans by bites of infected blackflies (Simulium spp.). (ouedraogo2024effectsoffive pages 1-2, stapley2024modellingonchocerciasisassociatedepilepsy pages 1-2, kura2023canmassdrug pages 1-2)

Recent expert synthesis stresses that despite the name “river blindness,” “the commonest clinical presentation is an inflammatory, degenerative dermal disease,” with severe itching and diverse skin changes; ocular disease arises from microfilariae and inflammatory responses and can cause blindness. (kamgno2025vectorbornehelminthiasesa pages 24-27)

1.2 Key identifiers (ontology and coding)

Limitation of current tool-retrieved evidence: none of the retrieved full texts contained explicit ICD-10/ICD-11 codes, MeSH descriptor IDs, Orphanet IDs, or MONDO IDs. Therefore, these identifiers cannot be reliably populated from the current evidence set without direct lookup from the relevant ontology/code systems.

1.3 Synonyms / alternative names

  • River blindness (common name) (ouedraogo2024effectsoffive pages 1-2, stapley2024modellingonchocerciasisassociatedepilepsy pages 1-2)
  • Onchocerciasis (standard medical name) (ouedraogo2024effectsoffive pages 1-2)

1.4 Evidence source type

This report is derived from aggregated disease-level resources and peer-reviewed studies (systematic reviews, modelling studies, and field epidemiology/program evaluations), not individual EHR case reports. (ouedraogo2024effectsoffive pages 1-2, stapley2024modellingonchocerciasisassociatedepilepsy pages 1-2, ityonzughul2024theinterruptionof pages 2-5)


2. Etiology

2.1 Disease causal factors

  • Infectious cause: Onchocerca volvulus (filarial nematode). (ouedraogo2024effectsoffive pages 1-2, stapley2024modellingonchocerciasisassociatedepilepsy pages 1-2)
  • Vector: blackflies (Simulium spp.; e.g., Simulium damnosum s.l.). (ouedraogo2024effectsoffive pages 1-2, stapley2024modellingonchocerciasisassociatedepilepsy pages 1-2)

2.2 Risk factors (human, environmental)

  • Environmental exposure to blackfly breeding sites (riverine/rapids): strong epidemiologic linkage to fast-flowing rivers where vectors breed; high epilepsy prevalence clusters near rivers in South Sudan foci. (amaral2025highepilepsyprevalence pages 1-2, jada2023effectofonchocerciasis pages 1-3)
  • High microfilarial load: retrospective cohort evidence incorporated into modelling indicates a dose–response relationship between childhood microfilarial load and later epilepsy risk. (stapley2024modellingonchocerciasisassociatedepilepsy pages 1-2)
  • Programmatic risk factor (continued transmission): suboptimal MDA coverage and systematic non-adherence are important drivers of ongoing transmission and slower elimination, motivating modelling of coverage/adherence scenarios. (kura2023canmassdrug pages 1-2)

2.3 Protective factors

  • High-coverage, sustained preventive chemotherapy (ivermectin MDA/CDTI): multi-year/decade preventive chemotherapy reduces infection and morbidity and can interrupt transmission under defined criteria in some settings. (ityonzughul2024theinterruptionof pages 2-5, ouedraogo2024effectsoffive pages 1-2)
  • Strengthened elimination programs + vector control: in Maridi (South Sudan), strengthened control (biannual CDTI plus “Slash and Clear” vector control) was associated with large reductions in epilepsy and nodding syndrome incidence over time. (jada2023effectofonchocerciasis pages 1-3)

2.4 Gene–environment interactions

No robust human host genetic susceptibility/protection loci were identified within the retrieved evidence set (2023–2026). The dominant “interaction” described in this literature is environmental exposure (vector biting intensity near breeding sites) modulated by intervention intensity (MDA and vector control). (amaral2025highepilepsyprevalence pages 1-2, jada2023effectofonchocerciasis pages 1-3)


3. Phenotypes (clinical spectrum)

3.1 Core clinical phenotypes

Recent authoritative synthesis describes: - Cutaneous disease: “intolerable itching, papular lesions, pigmentary change, skin thickening and premature skin ageing.” (kamgno2025vectorbornehelminthiasesa pages 24-27) - Ocular disease: microfilariae and inflammation can cause visual impairment and blindness. (kamgno2025vectorbornehelminthiasesa pages 24-27) - Neurologic disease: increasing evidence links onchocerciasis to epilepsy syndromes including nodding syndrome and OAE, with onset typically in childhood/adolescence. (stapley2024modellingonchocerciasisassociatedepilepsy pages 1-2)

3.2 Neurologic phenotype frequencies and burden (recent field data)

  • South Sudan (5 counties; 2021–2024 surveys): age-/sex-standardized epilepsy prevalence 4.1% (range 2.3–7.1%); probable nodding syndrome prevalence 1.5% (0.6–2.2%). Anti-Ov16 seroprevalence in children 3–9 years was 23.3% (1.4–44.1%). (amaral2025highepilepsyprevalence pages 1-2)
  • Wulu County, South Sudan (2024): epilepsy prevalence 4.1% (55/1,355); 20% had nodding seizures; annual incidence 147.6/100,000. Ov16 seroprevalence in children 3–9 years was 15.1% (n=119), reaching 30.9% in the village with 7.1% epilepsy prevalence. (fodjo2024epidemiologyofepilepsy pages 1-3)

3.3 Phenotype ontology suggestions (HPO)

Note: HPO mappings below are suggested for knowledge-base normalization; they were not explicitly provided in the retrieved articles. - Pruritus → HP:0000989 - Dermatitis/skin rash (papular lesions) → HP:0000964 (Eczema) / HP:0000988 (Skin rash) - Skin hypopigmentation (depigmentation) → HP:0001010 - Visual impairment → HP:0000505 - Blindness → HP:0000618 - Epileptic seizures → HP:0001250 - Nodding seizures (nodding syndrome; use as seizure phenotype) → HP:0001270 (Abnormality of movement) is non-specific; consider custom annotation + seizure subtype in local schema.

3.4 Quality of life impact

Direct QoL instrument outcomes (EQ-5D/SF-36) were not captured in the retrieved evidence set. Indirect but strong impact is supported by high epilepsy-associated mortality and young age at death in endemic foci (below). (amaral2025highepilepsyprevalence pages 1-2, fodjo2024epidemiologyofepilepsy pages 1-3)


4. Genetic / molecular information

4.1 Causal genes / pathogenic variants (human)

Not applicable in the Mendelian sense: onchocerciasis is an infectious disease caused by a helminth parasite. No human causal variants were identified in the retrieved evidence set.

4.2 Parasite and endosymbiont biology relevant to pathogenesis

Anti-Wolbachia treatment evidence implies key biological dependence of O. volvulus on Wolbachia (bacterial endosymbiont) and supports macrofilaricidal strategies by depleting Wolbachia. - Doxycycline regimens (anti-Wolbachia) show strong macrofilaricidal/embryogenesis effects: the review reports that 200 mg/day for six weeks produced “~96% Wolbachia loss and 99% microfilaria reduction,” and that “6-week doxycycline followed by a single ivermectin+albendazole dose gave an 89% macrofilaricidal effect at 2 years.” (karunakaran2023filariasisresearch– pages 9-10)

4.3 GO / CL suggestions (mechanism annotation)

Limitations: detailed cytokine/cellular mechanism text was not captured in the retrieved evidence; therefore, ontology suggestions are conservative. - Inflammatory response → GO:0006954 - Response to bacterium (for Wolbachia contributions) → GO:0009617 - Eosinophil activation (typical for helminths) → GO:0043300 (approximate; verify with targeted immunology sources) - Key immune cell types (CL): T cell CL:0000084, B cell CL:0000236, macrophage CL:0000235, eosinophil CL:0000771


5. Environmental information

5.1 Primary environmental driver

  • Exposure to blackfly habitats near fast-flowing rivers/rapids; association with epilepsy burden and transmission metrics near breeding sites is repeatedly documented in South Sudan foci. (amaral2025highepilepsyprevalence pages 1-2, jada2023effectofonchocerciasis pages 1-3)

5.2 Lifestyle factors

No specific lifestyle risk or protective factors (diet, smoking, etc.) were identified in the retrieved evidence set.


6. Mechanism / pathophysiology (current understanding)

6.1 Causal chain (high-level)

1) Infective blackfly bite → transmission of O. volvulus to human host. (ouedraogo2024effectsoffive pages 1-2, stapley2024modellingonchocerciasisassociatedepilepsy pages 1-2) 2) Adult worms establish and produce microfilariae → microfilariae migrate through skin and ocular tissues, provoking inflammatory disease. (kamgno2025vectorbornehelminthiasesa pages 24-27) 3) Clinical outcomes: chronic pruritic dermatoses; ocular inflammation/vision loss; and in high-transmission settings, increased risk of epilepsy syndromes (OAE/nodding syndrome) associated with microfilarial burden in childhood. (kamgno2025vectorbornehelminthiasesa pages 24-27, stapley2024modellingonchocerciasisassociatedepilepsy pages 1-2)

6.2 OAE mechanistic framing (evidence level)

  • Epidemiological dose–response evidence: modelling integrates retrospective cohort data linking childhood microfilarial load to later epilepsy, and reproduces observed epilepsy prevalence/incidence in Cameroon. (stapley2024modellingonchocerciasisassociatedepilepsy pages 1-2)
  • Mechanistic uncertainty: multiple sources explicitly highlight that the exact pathophysiological mechanism of epilepsy association remains unresolved, despite strong epidemiologic evidence. (stapley2024modellingonchocerciasisassociatedepilepsy pages 1-2)

7. Anatomical structures affected

7.1 Organ level

  • Skin (primary): chronic inflammatory/degenerative dermal disease. (kamgno2025vectorbornehelminthiasesa pages 24-27)
  • Eye (primary): anterior chamber microfilariae and inflammatory ocular adverse events after treatment; visual impairment/blindness. (kamgno2025vectorbornehelminthiasesa pages 24-27, kanza2024onchocercavolvulusmicrofilariae pages 1-2)
  • Nervous system (secondary/complication): epilepsy syndromes (OAE; nodding syndrome). (stapley2024modellingonchocerciasisassociatedepilepsy pages 1-2, amaral2025highepilepsyprevalence pages 1-2)

7.2 UBERON suggestions

  • Skin → UBERON:0002097
  • Eye → UBERON:0000970
  • Brain → UBERON:0000955

8. Temporal development (onset and progression)

8.1 OAE onset window

OAE typically begins between ages 3–18 years in previously healthy children in highly endemic areas. (stapley2024modellingonchocerciasisassociatedepilepsy pages 1-2, bhattacharyya2023onchocerciasisassociatedepilepsyin pages 1-2)

8.2 Chronicity

Onchocerciasis is typically a chronic infection requiring sustained interventions (often ≥10–15 years) to interrupt transmission in endemic foci, consistent with field-program knowledge and recent field studies. (ouedraogo2024effectsoffive pages 1-2, fodjo2024epidemiologyofepilepsy pages 1-3)


9. Inheritance and population

9.1 Epidemiology / burden statistics (recent)

  • GBD-informed context (as summarized in recent modelling work): ~20 million infected and ~1.26 million DALYs (GBD 2021 attribution) and at least 248 million people in SSA requiring MDA (2024 estimate cited). (dixon2026modellingofonchocerciasisassociated pages 1-5)
  • OAE/epilepsy burden in endemic foci: epilepsy prevalence 4.1% (South Sudan multi-county study) with strong association to ongoing transmission (Ov16 seroprevalence). (amaral2025highepilepsyprevalence pages 1-2)

9.2 Geographic distribution

  • Endemic across many sub-Saharan African countries; some evidence indicates elimination verified in only a small fraction of foci as of 2025 (as summarized in recent modelling context). (dixon2026modellingofonchocerciasisassociated pages 1-5)

10. Diagnostics

10.1 Core diagnostic modalities used in elimination programs

  • Ov16 serology (ELISA and RDTs): used for mapping/surveillance and stop-MDA decisions in children. (ityonzughul2024theinterruptionof pages 2-5, norman2026assessingdiagnosticaccuracy pages 3-5)
  • Skin snip microscopy / PCR (O-150): direct detection of microfilariae or parasite DNA; used for confirmation and in some studies as reference/comparator. (ityonzughul2024theinterruptionof pages 1-2, otabil2025usabilityacceptabilityand pages 1-6)
  • Entomological monitoring: pooled PCR of blackfly heads for O-150 DNA to estimate infective fly prevalence. (ityonzughul2024theinterruptionof pages 1-2)

10.2 WHO-aligned stopping-MDA thresholds (programmatic decision rules)

From the Nigeria stop-treatment decision paper: - Epidemiological criterion: Ov16 seroprevalence in children 5–9 years with 95% UCL <0.1% using surveys of ≥3,000 children. (ityonzughul2024theinterruptionof pages 1-2) - Entomological criterion: infective fly prevalence by O-150 PCR <0.05% with 95% confidence among ≥6,000 flies, or annual transmission potential (ATP) <20 with 95% confidence if fewer flies are analyzed. (ityonzughul2024theinterruptionof pages 1-2)

10.3 Diagnostic test performance targets and recent evaluations

A recent latent-class evaluation summarized WHO target product profile (TPP) thresholds for Ov16 RDTs: - Mapping: sensitivity ≥60% and specificity ≥99.8% - Stop-MDA: sensitivity ≥89% and specificity ≥99.8% (norman2026assessingdiagnosticaccuracy pages 3-5)

In the same evaluation, the GADx Ov16 rapid test achieved posterior median sensitivity ~92% but specificities (highest median ~98.8%) remained below the 99.8% benchmark, implying that confirmatory/combined strategies may still be required for high-stakes stop-MDA decisions. (norman2026assessingdiagnosticaccuracy pages 1-3, norman2026assessingdiagnosticaccuracy pages 7-11)

10.4 Real-world implementation: usability and cost

In Ghana, an Ov16 SD BIOLINE RDT surveillance study reported substantially higher acceptability than skin snips and a cost model of US$24/person for Ov16 RDT vs US$74/person for skin-snip microscopy (standardized to testing 400 participants). (otabil2025usabilityacceptabilityand pages 1-6)


11. Outcomes / prognosis

11.1 Epilepsy-associated excess mortality in endemic regions

A large multi-county study in South Sudan reported markedly elevated mortality among persons with suspected epilepsy compared to individuals without epilepsy: - Standardized mortality rates: 67.6/1,000 person-years (suspected epilepsy) vs 9.0/1,000 person-years (without epilepsy) - Standardized mortality ratio (SMR): 6.9 (95% CI 5.9–8.0) - Median age at death: 20 years (epilepsy) vs 38 years (without epilepsy) (amaral2025highepilepsyprevalence pages 1-2)

11.2 Modeled prevention impact

EPIONCHO-IBM modelling calibrated to Cameroon cohort data predicted epilepsy prevalence and incidence consistent with observed data and suggested that long-term intensified ivermectin strategies (e.g., biannual MDA at high coverage) could eliminate OAE in hyperendemic settings. (stapley2024modellingonchocerciasisassociatedepilepsy pages 1-2)


12. Treatment

12.1 Standard of care / programmatic backbone

  • Ivermectin mass drug administration (MDA/CDTI) remains the backbone strategy for control and elimination. (ouedraogo2024effectsoffive pages 1-2, kanza2024onchocercavolvulusmicrofilariae pages 1-2)

12.2 Moxidectin (recent research and applications)

Rationale and modelling: A 2023 modelling analysis reports that annual ivermectin alone may not achieve elimination everywhere, while moxidectin’s superiority in prolonged microfilarial clearance could accelerate elimination; projections indicate biannual moxidectin MDA may halve time-to-elimination in mesoendemic areas and may be necessary in hyperendemic areas. (kura2023canmassdrug pages 1-2)

Phase 3 ocular safety outcome detail: In a randomized double-blind Phase 3 comparison, ocular Mazzotti reactions occurred in 12.4% of moxidectin-treated vs 10.2% of ivermectin-treated participants, with similar effects on microfilariae in the anterior chamber. (kanza2024onchocercavolvulusmicrofilariae pages 1-2)

Loa loa co-endemic safety considerations: A randomized trial in Loa loa–infected individuals (Cameroon; NCT04049851) found no serious/severe adverse events with 2 mg moxidectin vs ivermectin in low microfilaremia strata and suggests further dose exploration. (wafeu2024safetyandshortterm pages 1-2)

12.3 Anti-Wolbachia therapy (macrofilaricidal strategy)

A 2023 translational review reports doxycycline anti-Wolbachia regimens can be macrofilaricidal and profoundly reduce microfilariae (e.g., “~96% Wolbachia loss and 99% microfilaria reduction” with 6 weeks of doxycycline 200 mg/day), but WHO recommends doxycycline for individual therapy rather than MDA due to multi-week dosing and contraindications (pregnancy, breastfeeding, children <8). (karunakaran2023filariasisresearch– pages 9-10)

12.4 Late-stage / experimental therapeutics and trials (NCT identifiers)

From a 2023 review of pipeline agents (anti-Wolbachia and direct-acting candidates): - ABBV-4083 / flubentylosin (anti-Wolbachia), Phase II: NCT04913610 (karunakaran2023filariasisresearch– pages 9-10) - AWZ1066S (anti-Wolbachia), Phase I: NCT05084560 (karunakaran2023filariasisresearch– pages 9-10) - Emodepside (direct-acting), Phase II: NCT05180461 (karunakaran2023filariasisresearch– pages 9-10) - Oxfendazole (direct-acting), Phase II: NCT04713787 (karunakaran2023filariasisresearch– pages 9-10)

12.5 Treatment ontology suggestions (MAXO) and chemical entities (ChEBI)

Note: ontology identifiers below are suggested for knowledge base normalization. - Ivermectin administration / preventive chemotherapy → MAXO:0000757 (drug therapy; verify exact MAXO term) (ouedraogo2024effectsoffive pages 1-2) - Moxidectin therapy → MAXO drug therapy term (kura2023canmassdrug pages 1-2) - Doxycycline therapy (anti-Wolbachia) → MAXO drug therapy term (karunakaran2023filariasisresearch– pages 9-10)

ChEBI suggestions: - Ivermectin → CHEBI term (not provided in evidence; requires lookup) - Moxidectin → CHEBI term (not provided in evidence; requires lookup) - Doxycycline → CHEBI term (not provided in evidence; requires lookup)


13. Prevention

13.1 Primary prevention (public health)

  • Vector exposure reduction and vector control in breeding sites (e.g., “Slash and Clear” vegetation control around breeding sites) can complement MDA and is supported by modelling and field program experience. (jada2023effectofonchocerciasis pages 1-3)

13.2 Secondary prevention

  • Surveillance using Ov16 serology and entomological PCR to detect residual transmission and to support stop-MDA decisions under WHO criteria. (ityonzughul2024theinterruptionof pages 1-2)

13.3 Tertiary prevention

  • In high OAE burden settings, integrated intervention is advocated combining strengthened onchocerciasis programs and reliable access to antiseizure medications to reduce disability and mortality. (amaral2025highepilepsyprevalence pages 1-2)

14. Other species / natural disease

14.1 Zoonotic potential and other Onchocerca species

The retrieved evidence set did not contain primary data on zoonotic transmission for O. volvulus; it focuses on human onchocerciasis. A related research context for filarial disease uses animal parasites and comparative models (below). (karunakaran2023filariasisresearch– pages 1-2)


15. Model organisms and experimental systems

15.1 Animal models enabling onchocerciasis research

A 2023 filariasis research review highlights the Litomosoides sigmodontis animal model as “extensively useful in elucidating protective immune responses against filariae” and for studying filarial immunomodulation, supporting translational work in onchocerciasis. (karunakaran2023filariasisresearch– pages 1-2)

15.2 In vitro / molecular diagnostics development

The same review describes development of “sensitive qPCRs as well as LAMP assays” and ongoing “artificial intelligence based histology analysis for onchocerciasis.” (karunakaran2023filariasisresearch– pages 1-2)


Recent developments and expert analysis (2023–2024 prioritized)

1) Stop-MDA at unprecedented scale: Nigeria’s Abia, Anambra, Enugu, and Imo states met WHO epidemiologic and entomological criteria and stopped MDA effective Jan 2023, representing 18.9 million residents eligible for MDA in the “largest global onchocerciasis stop-treatment decision to date.” (ityonzughul2024theinterruptionof pages 1-2)

2) Diagnostic innovation with persistent specificity gaps: Bayesian latent-class analysis (field studies in 2023) suggests newer Ov16 RDTs can exceed sensitivity thresholds for stop-MDA decisions, but none met the WHO specificity benchmark of ≥99.8%, reinforcing the need for confirmatory strategies. (norman2026assessingdiagnosticaccuracy pages 1-3, norman2026assessingdiagnosticaccuracy pages 7-11)

3) Shift to alternative tools where ivermectin is insufficient: Modelling indicates that moxidectin MDA (especially biannual) may be necessary for elimination in hyperendemic settings, motivating implementation research and policy discussions. (kura2023canmassdrug pages 1-2)

4) Pipeline maturation: Anti-Wolbachia candidates (e.g., ABBV-4083, AWZ1066S) and direct-acting macrofilaricides (emodepside, oxfendazole) were in Phase I/II development with identified NCT registrations as of 2023. (karunakaran2023filariasisresearch– pages 9-10)

5) Recognition of neurological burden and mortality: High epilepsy prevalence and excess mortality in endemic counties (South Sudan) support expert calls to integrate onchocerciasis and epilepsy programs. (amaral2025highepilepsyprevalence pages 1-2)


Evidence tables

The table below compiles key quantitative parameters for burden, elimination thresholds, and therapeutics/trials.

Domain Finding/Threshold Study/Source (author-year) Population/Setting Date URL/DOI Notes
Burden/epidemiology ~20 million infected; 1.26 million DALYs (95% UI 0.75–1.90 million); ≥248 million people in SSA required MDA Dixon et al. 2026 Sub-Saharan Africa / GBD-informed modelling context 2026-03 https://doi.org/10.1038/s43856-026-01464-2 Summarizes recent burden context up to 2024–2025; notes elimination verified in few foci (dixon2026modellingofonchocerciasisassociated pages 1-5)
Burden/epidemiology 1.23 million DALYs attributable to onchocerciasis in 2019 Stapley et al. 2024 Global Burden of Disease estimate referenced in OAE model 2024-07 https://doi.org/10.1038/s41467-024-50582-9 Used as burden baseline in modelling OAE prevention impact (stapley2024modellingonchocerciasisassociatedepilepsy pages 1-2)
Burden/epidemiology Epilepsy prevalence 4.1% (range 2.3–7.1%); probable nodding syndrome 1.5% (0.6–2.2%) Amaral et al. 2025 34,019 individuals in 5 onchocerciasis-endemic counties, South Sudan 2025-06 https://doi.org/10.1371/journal.pntd.0013244 Anti-Ov16 seroprevalence in children 3–9 y was 23.3% (1.4–44.1%) (amaral2025highepilepsyprevalence pages 1-2)
Burden/epidemiology Standardized mortality rate 67.6/1,000 PY in persons with suspected epilepsy vs 9.0/1,000 PY in individuals without epilepsy; SMR 6.9 Amaral et al. 2025 South Sudan endemic counties 2025-06 https://doi.org/10.1371/journal.pntd.0013244 Median age at death 20 y in epilepsy vs 38 y in controls (amaral2025highepilepsyprevalence pages 1-2)
Burden/epidemiology Epilepsy prevalence 4.1%; annual incidence 147.6/100,000; epilepsy mortality 323.7/100,000 persons Fodjo et al. 2024 1,355 people in Wulu County, South Sudan 2024-09 https://doi.org/10.1016/j.heliyon.2024.e37537 Ov16 seroprevalence in children 3–9 y was 15.1%; nodding seizures in 20% of epilepsy cases (fodjo2024epidemiologyofepilepsy pages 1-3)
Burden/epidemiology Predicted epilepsy prevalence 7.6% and incidence 317/100,000 PY Stapley et al. 2024 Cameroon-calibrated EPIONCHO-IBM model 2024-07 https://doi.org/10.1038/s41467-024-50582-9 Closely matched observed 8.2% prevalence and 350/100,000 PY incidence (stapley2024modellingonchocerciasisassociatedepilepsy pages 1-2)
Burden/epidemiology OAE prevalence estimated 4.1%; annual ivermectin MDA with ~70% coverage could reduce OAE incidence by >50% within 5 years Bhattacharyya et al. 2023 Maridi, South Sudan modelling 2023-05 https://doi.org/10.1371/journal.pntd.0011320 Combined vector control + MDA projected to outperform either alone (bhattacharyya2023onchocerciasisassociatedepilepsyin pages 1-2)
Burden/epidemiology Epilepsy incidence fell from 348.8 to 41.7/100,000 PY; nodding syndrome from 154.7 to 10.4/100,000 PY after strengthened control Jada et al. 2023 Maridi, South Sudan prospective study 2023-04 https://doi.org/10.21203/rs.3.rs-2764415/v1 After biannual CDTI and “Slash and Clear” vector control; ivermectin uptake still only 56.6% in 2021 (jada2023effectofonchocerciasis pages 1-3)
Stop-MDA diagnostics Ov16 criterion: seroprevalence <0.1% in children 5–9 y with 95% confidence (95% UCL <0.1%); survey size ≥3,000 children Ityonzughul et al. 2024 WHO-aligned stop-MDA decision, Nigeria 2024-08 https://doi.org/10.3390/pathogens13080671 Four Nigerian states met criterion; largest stop-treatment decision to date (ityonzughul2024theinterruptionof pages 2-5, ityonzughul2024theinterruptionof pages 1-2)
Stop-MDA diagnostics Entomology criterion: infective fly prevalence <0.05% by O-150 PCR with 95% confidence; minimum sample 6,000 flies Ityonzughul et al. 2024 WHO-aligned stop-MDA decision, Nigeria 2024-08 https://doi.org/10.3390/pathogens13080671 If fewer flies analyzed, ATP criterion may be used instead (ityonzughul2024theinterruptionof pages 2-5, ityonzughul2024theinterruptionof pages 1-2)
Stop-MDA diagnostics ATP criterion: annual transmission potential <20 with 95% confidence when fly sample size is insufficient Ityonzughul et al. 2024 WHO-aligned stop-MDA decision, Nigeria 2024-08 https://doi.org/10.3390/pathogens13080671 Alternative to infective-fly prevalence criterion (ityonzughul2024theinterruptionof pages 2-5, ityonzughul2024theinterruptionof pages 1-2)
Stop-MDA diagnostics WHO TPP thresholds for Ov16 RDTs: sensitivity ≥60% for mapping, ≥89% for stop-MDA; specificity ≥99.8% Norman et al. 2026 Bayesian latent class evaluation of Ov16 RDTs 2026-01 https://doi.org/10.64898/2026.01.20.26344416 Current tests generally fail the 99.8% specificity target needed for stand-alone stop-MDA decisions (norman2026assessingdiagnosticaccuracy pages 3-5, norman2026assessingdiagnosticaccuracy pages 1-3, norman2026assessingdiagnosticaccuracy pages 7-11)
Stop-MDA diagnostics GADx Ov16 RDT sensitivity 92.0–92.8%; highest median specificity 98.8% Norman et al. 2026 Mozambique, Ghana, Benin pooled data 2026-01 https://doi.org/10.64898/2026.01.20.26344416 Sensitivity exceeds stop-MDA threshold, specificity still below 99.8% benchmark (norman2026assessingdiagnosticaccuracy pages 1-3, norman2026assessingdiagnosticaccuracy pages 7-11)
Stop-MDA diagnostics SD Bioline Ov16 RDT field cost about US$24/person vs US$74/person for skin-snip microscopy Otabil et al. 2025 Surveillance costing model, Ghana 2025-05 https://doi.org/10.1101/2024.05.07.24306977 RDT preferred by participants/technicians; more acceptable and less invasive (otabil2025usabilityacceptabilityand pages 31-35, otabil2025usabilityacceptabilityand pages 11-15, otabil2025usabilityacceptabilityand pages 1-6)
Intervention/drug Biannual moxidectin MDA could halve years to elimination in mesoendemic settings and may be only strategy achieving EoT in hyperendemic areas Kura et al. 2023 EPIONCHO-IBM modelling, Africa 2023-08 https://doi.org/10.1098/rstb.2022.0277 Based on Phase II/III evidence of longer-lasting microfilarial suppression than ivermectin (kura2023canmassdrug pages 1-2)
Intervention/drug Moxidectin 8 mg FDA-approved for onchocerciasis; ocular Mazzotti reactions 12.4% vs 10.2% with ivermectin in phase 3 comparison Kanza et al. 2024 DRC, Ghana, Liberia; ivermectin-naïve adults with ≥10 SmfD 2024-03 https://doi.org/10.1186/s13071-023-06087-3 mf in anterior chamber changed similarly with moxidectin and ivermectin (kanza2024onchocercavolvulusmicrofilariae pages 1-2)
Intervention/drug Moxidectin vs ivermectin phase 3 trial ClinicalTrials.gov NCT00790998 Onchocerca volvulus infection completed; phase 3 https://clinicaltrials.gov/study/NCT00790998 Enrollment 1,497; sponsor Medicines Development for Global Health
Intervention/drug Annual or biannual moxidectin vs ivermectin safety/efficacy trial ClinicalTrials.gov NCT03876262 Onchocerciasis active, phase 3 https://clinicaltrials.gov/study/NCT03876262 Enrollment 323
Intervention/drug Large safety study of single-dose moxidectin vs ivermectin (with/without LF co-endemicity/albendazole) ClinicalTrials.gov NCT04311671 Endemic-area participants completed; phase 3 https://clinicaltrials.gov/study/NCT04311671 Enrollment 12,979
Intervention/drug Moxidectin pediatric PK/safety dose-finding ClinicalTrials.gov NCT03962062 Children 4–11 years completed; phase 1 https://clinicaltrials.gov/study/NCT03962062 Supports future pediatric registration/use
Intervention/drug Moxidectin MDA implementation study ClinicalTrials.gov NCT07145736 Community MDA for onchocerciasis/other NTDs recruiting; phase 4 https://clinicaltrials.gov/study/NCT07145736 Planned enrollment 52,000
Intervention/drug Doxycycline 200 mg/day x 6 weeks: ~96% Wolbachia depletion and 99% microfilaria reduction; macrofilaricidal effect ~89% at 2 years when followed by ivermectin+albendazole Karunakaran et al. 2023 Anti-Wolbachia therapy review 2023-03 https://doi.org/10.3389/fitd.2023.1126173 Recommended by WHO for individual therapy, not MDA; safe in Loa loa co-endemicity because L. loa lacks Wolbachia (karunakaran2023filariasisresearch– pages 9-10)
Intervention/drug ABBV-4083 (flubentylosin), phase 2 Karunakaran et al. 2023 / ClinicalTrials.gov Adult participants with O. volvulus infection 2023 context https://clinicaltrials.gov/study/NCT04913610 Anti-Wolbachia candidate; NCT04913610; terminated; enrollment 153 (karunakaran2023filariasisresearch– pages 9-10)
Intervention/drug AWZ1066S, phase 1 Karunakaran et al. 2023 / ClinicalTrials.gov Healthy volunteers / anti-Wolbachia development 2023 context https://clinicaltrials.gov/study/NCT05084560 Small-molecule anti-Wolbachia candidate; terminated; enrollment 30 (karunakaran2023filariasisresearch– pages 9-10)
Intervention/drug Emodepside, phase 2 Karunakaran et al. 2023 / ClinicalTrials.gov Treatment of onchocerciasis 2023 context https://clinicaltrials.gov/study/NCT05180461 Direct-acting candidate; active not recruiting; enrollment 578 (karunakaran2023filariasisresearch– pages 9-10)
Intervention/drug Oxfendazole, phase 2 Karunakaran et al. 2023 Treatment candidate for onchocerciasis 2023 context NCT04713787 Listed as direct-acting candidate in development table (karunakaran2023filariasisresearch– pages 9-10)
Intervention/drug High-dose rifampicin / rifampin studied as anti-Wolbachia approach Karunakaran et al. 2023 / ClinicalTrials.gov River blindness treatment development 2023 context https://clinicaltrials.gov/study/NCT00127504 Earlier rifampin+azithromycin trial completed; high-dose rifampicin study was scheduled in review table (karunakaran2023filariasisresearch– pages 9-10)

Table: This table compacts recent onchocerciasis evidence across burden, stop-MDA diagnostics, and therapeutic development. It is designed as a quick-reference artifact for knowledge-base population and programmatic decision support.


Direct quotes from abstracts (selected)

  • Nigeria stop-MDA decision: “Each state therefore met the World Health Organization epidemiological and entomological criteria for stopping MDA effective January 2023.” (ityonzughul2024theinterruptionof pages 1-2)
  • OAE modelling: “EPIONCHO-IBM predicted 7.6% epilepsy prevalence (compared to 8.2% in the Cameroon study) and incidence of 317 cases/100,000 person-years (compared to 350).” (stapley2024modellingonchocerciasisassociatedepilepsy pages 1-2)
  • Moxidectin modelling: “EPIONCHO-IBM's projections indicate that biannual (six-monthly) moxidectin MDA can reduce by half the number of years necessary to achieve EoT in mesoendemic areas and might be the only strategy that can achieve EoT in hyperendemic areas.” (kura2023canmassdrug pages 1-2)

Key limitations and recommended next steps for knowledge-base completion

1) Ontology identifiers (MONDO/ICD/MeSH/Orphanet) were not present in retrieved texts; populate these via direct lookup from the respective databases. 2) Detailed immunopathogenesis (cytokines, cell-specific pathways, ocular lesion subtypes) and validated QoL instruments were not covered in the retrieved evidence; targeted searches in immunology/ophthalmology literature and WHO/CDC clinical guidance would be required. 3) Genetic susceptibility/protective loci were not identified here; if needed, dedicated GWAS/host-genetics searches should be performed.

References

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