ORPHA:576370
Variant Creutzfeldt-Jakob disease
Also known as: Variant MCJ · vCJD
Publications
2,756
Trials
0
Interventional, condition-specific
Researchers
977
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare acquired human prion disease characterized by a , invariably fatal neuropsychiatric disorder resulting from transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual. Patients typically present early psychiatric symptoms (such as depression, anxiety, apathy, withdrawal, and delusions), as well as persistent painful sensory symptoms, , myoclonus, chorea, or dystonia, and dementia. Brain MRI often shows bilateral FLAIR hyperintensities involving the pulvinar thalamic nuclei. Neuropathological examination reveals spongiform change and extensive deposition of abnormal prion protein with florid plaques throughout the cerebrum and cerebellum.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007012
- UMLS:C0376329
- NCIT:C128438
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
2,756 matched papers (637 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelPresent
1 genotype model (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Prnptm1Cwe/Prnptm1Cwe Tg(PRNP)23454Sbp/0 [background:] involves: 129S7/SvEvBrd * FVB/N·MGI:6279179·Mus musculus
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)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
2,756
2,756 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
2,756 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).
637 in the last 10 years · low confidence
Phrase hits: 2,756 · MeSH hits: 0
Who's working on it?
977
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Knight R10 papers · 2025
National Creutzfeldt-Jakob Disease Research and Surveillance Unit, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh EH4 2XU, U.K.
Papers in Europe PMC - 02Asher DM8 papers · 2025
US Food and Drug Administration, Silver Spring, Maryland.
Papers in Europe PMC - 03Gregori L8 papers · 2025
US Food and Drug Administration, Silver Spring, Maryland.
Papers in Europe PMC - 04Mead S8 papers · 2026
University College London Institute of Neurology, London, United Kingdom jc@prion.ucl.ac.uk.
Papers in Europe PMC - 05Andréoletti O6 papers · 2025
Unité Mixte de Recherche, Institut National de la Recherche Agronomique-École Nationale Vétérinaire de Toulouse 1225, Interactions Hôtes Agents Pathogènes, Toulouse, France.
Papers in Europe PMC - 06Bett C6 papers · 2025
U.S. Food and Drug Administration, Center for Biologics Evaluation and Research, Division of Emerging and Transfusion Transmitted Diseases, Silver Spring, MD, 20993, USA.
Papers in Europe PMC - 07Bougard D6 papers · 2024
Etablissement Français du Sang, INSERM, Université de Montpellier, UMR 1058, TransDiag, F-34184 Montpellier, France. joliette.coste@efs.sante.fr daisy.bougard@efs.sante.fr.
Papers in Europe PMC - 08Collinge J6 papers · 2026
University College London Institute of Neurology, London, United Kingdom jc@prion.ucl.ac.uk.
Papers in Europe PMC - 09Torres JM6 papers · 2025
Centro de Investigación en Sanidad Animal (CISA-INIA), Valdeolmos, Madrid, Spain.
Papers in Europe PMC - 10Brandner S5 papers · 2026
University College London Institute of Neurology, London, United Kingdom jc@prion.ucl.ac.uk.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · dropped 0 · fetched 2026-07-30
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 (6)
- isrctn·ISRCTN12181449·Recruiting·Hepatitis C Inoculum Trial (HIT): Blood collection from hepatitis C positive donors for use in a controlled human challenge model
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN30359027·No longer recruiting·Feasibility of faecal microbiota transplantation in the management of obesity and type 2 diabetes
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN74072945·Stopped·A research study looking at faecal transplant as a treatment for ulcerative colitis, and the best way to use it in patients with the condition
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN58082603·No longer recruiting·Faecal microbiota transplantation in ulcerative colitis
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN08227262·No longer recruiting·Transnasal endoscopy: image quality and patient acceptability
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN65689096·No longer recruiting·Comparison of two techniques for collecting umbilical cord blood: on the mother (upper level) versus on the delivery table (bottom level)
skipped — LLM skipped (--skip-llm)
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 Variant Creutzfeldt-Jakob disease — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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.
"Variant Creutzfeldt-Jakob disease" OR "Variant MCJ"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Variant Creutzfeldt-Jakob disease" OR "Variant MCJ"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: vCJD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (2756) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T18:38:36.694Z