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ORPHA:858

Congenital toxoplasmosis

low confidenceDisorder

Also known as: Mother-to-child transmission of toxoplasmosis · Toxoplasma embryofetopathy · Toxoplasma embryopathy

Publications

5,658

Trials

5

Interventional, condition-specific

Researchers

1,214

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare fetopathy characterized by ocular, visceral or intracranial lesions secondary to maternal primary infection by Toxoplasma gondii (Tg).

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 (3)

congenital toxoplasmosis · mother-to-child transmission of toxoplasmosis · toxoplasmosis, congenital

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.”

3/6 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

    5,658 matched papers (1,775 in last 10 years) Source

  3. Phenotype characterisedPresent

    26 HPO annotations (e.g. Hydrocephalus; Microcephaly; Jaundice) Source

  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

    5 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)

26

Associated phenotypes · MONDO:0005715

  • Hydrocephalus
  • Microcephaly
  • Jaundice
  • Seizure
  • Hypotonia

Showing 5 of 26 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

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

  • acetylspiramycin · therapeutic
  • Prednisolone · therapeutic

MyDisease.info · MONDO:0005715

Literature

Is anyone studying this?

5,658

5,658 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,658 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).

1,775 in the last 10 years · low confidence

Phrase hits: 5,658 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,214

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
    Villena I7 papers · 2026

    EA7510 et Centre National de Référence de la Toxoplasmose, Centre de Ressources Biologiques Toxoplasma, Service de Parasitologie-Mycologie, Université Reims Champagne Ardenne, Centre Hospitalier Universitaire de Reims, Reims, France.

    Papers in Europe PMC
  2. 02
    Almeida MPO6 papers · 2026

    Laboratory of Immunophysiology of Reproduction, Institute of Biomedical Sciences, Universidade Federal de Uberlândia, Uberlândia 38405-318, MG, Brazil.

    Papers in Europe PMC
  3. 03
    Barbosa BF6 papers · 2026

    Laboratory of Immunophysiology of Reproduction, Institute of Biomedical Sciences, Universidade Federal de Uberlândia, Uberlândia, MG, Brazil.

    Papers in Europe PMC
  4. 04
    Ferro EAV6 papers · 2026

    Laboratory of Immunophysiology of Reproduction, Institute of Biomedical Sciences, Universidade Federal de Uberlândia, Uberlândia, MG, Brazil. Electronic address: eloisa.ferro@ufu.br.

    Papers in Europe PMC
  5. 05
    Gomes AO5 papers · 2026

    Institute of Natural and Biological Sciences, Universidade Federal do Triângulo Mineiro, Uberaba, MG, Brazil.

    Papers in Europe PMC
  6. 06
    Pelloux H5 papers · 2025

    Centre National de Référence Toxoplasmose-Pôle sérologie, Hôpitaux Universitaires de Strasbourg , Strasbourg, France.

    Papers in Europe PMC
  7. 07
    Teixeira SC5 papers · 2026

    Laboratory of Immunophysiology of Reproduction, Institute of Biomedical Sciences, Universidade Federal de Uberlândia, Uberlândia, MG, Brazil.

    Papers in Europe PMC
  8. 08
    Alves RN4 papers · 2026

    Department of Agricultural and Natural Science, Universidade do Estado de Minas Gerais, Ituiutaba, MG, Brazil.

    Papers in Europe PMC
  9. 09
    Baquero-Artigao F4 papers · 2026

    Congenital Infections Working Group, Spanish Society of Pediatric Infectious Diseases (SEIP), Spain.

    Papers in Europe PMC
  10. 10
    Blázquez-Gamero D4 papers · 2026

    Congenital Infections Working Group, Spanish Society of Pediatric Infectious Diseases (SEIP), Spain.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 19 trials are registered for toxoplasmosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).

low confidence · 89.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: toxoplasmosis

19

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

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as 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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (2)

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 Congenital toxoplasmosis — 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.

"Congenital toxoplasmosis" OR "Mother-to-child transmission of toxoplasmosis" OR "Mother-to-child transmission of the toxoplasmosis" OR "Toxoplasma embryofetopathy" OR "Toxoplasma embryopathy" OR "toxoplasmosis, congenital"

Run this search on Europe PMC

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

"Congenital toxoplasmosis" OR "Mother-to-child transmission of toxoplasmosis" OR "Mother-to-child transmission of the toxoplasmosis" OR "Toxoplasma embryofetopathy" OR "Toxoplasma embryopathy" OR "toxoplasmosis, congenital"

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: 5 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"toxoplasmosis"

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (5658) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T15:40:21.901Z