ORPHA:282166
Inherited Creutzfeldt-Jakob disease
Also known as: Inherited CJD
Publications
7,577
Trials
0
Interventional, condition-specific
Researchers
386
Distinct authors in sample
Gene link
PRNP
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare form of genetic prion disease characterized by typical CJD features (rapidly dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ) with a genetic cause and sometimes a family history of dementia.
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:0007403
- OMIM:123400
- UMLS:C0751254
Additional Mondo synonyms (3)
Creutzfeldt-Jakob disease, variant, resistance to · hereditary Creutzfeldt Jacob disease · inherited CJD
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — PRNP
- LiteraturePresent
7,577 matched papers (4,025 in last 10 years) Source
- Phenotype characterisedPresent
71 HPO annotations (e.g. Confusion; Memory impairment; Depression) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- 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?
Yes — we know a specific gene responsible (PRNP).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
71
Associated phenotypes · MONDO:0007403
- Confusion
- Memory impairment
- Depression
- Hallucinations
- Apathy
Showing 5 of 71 — 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)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
7,577
7,577 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.
7,577 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).
4,025 in the last 10 years · low confidence
Phrase hits: 81 · MeSH hits: 0
Who's working on it?
386
Distinct author names in 81 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.
- 01Collinge J10 papers · 2022
MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
Papers in Europe PMC - 02Mead S6 papers · 2022
National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCLH Hospitals NHS Foundation Trust, Box 98, Queen Square, London WC1N 3BG, United Kingdom; MRC Prion Unit, Department of Neurodegenerative Diseases, UCL Institute of Neurology, Queen Square House, Queen Square, London WC1N 3BG, United Kingdom.
Papers in Europe PMC - 03Prusiner SB4 papers · 2017
Department of Neurology, University of California, San Francisco 94143-0518.
Papers in Europe PMC - 04Rudge P4 papers · 2019
National Prion Clinic, National Hospital for Neurology and Neurosurgery, UCLH Hospitals NHS Foundation Trust, Box 98, Queen Square, London WC1N 3BG, United Kingdom; MRC Prion Unit, Department of Neurodegenerative Diseases, UCL Institute of Neurology, Queen Square House, Queen Square, London WC1N 3BG, United Kingdom.
Papers in Europe PMC - 05Brandel JP3 papers · 2021
Cellule Nationale de référence des MCJ, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Papers in Europe PMC - 06Brandner S3 papers · 2013
MRC Prion Unit and Department of Neurodegenerative Disease, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
Papers in Europe PMC - 07de Silva R3 papers · 1997Papers in Europe PMC
- 08Laplanche JL3 papers · 2021
Faculté de Pharmacie de Paris, Paris University, Paris F-75006, France.
Papers in Europe PMC - 09Rajbhandari R3 papers · 2022
Department of Neurology, Tribhuvan University Teaching Hospital, Kathmandu Nepal
Papers in Europe PMC - 10Will RG3 papers · 1997Papers 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 61 · after dedupe 61 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 61 · 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 (61)
- 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)
- ctis·2025-524125-40-01·Authorised·Immune dynamics and biomarkers of anti-tumor response in BMS-986340 (anti-CCR8) and nivolumab (anti-PD-1) co-treatment of metastatic tumors
skipped — LLM skipped (--skip-llm)
- ctis·2023-505575-69-01·Authorised·Fight Osteosarcoma Through European Research evolving study platform from diagnosis to relapse (FOSTER evolving study platform)
skipped — LLM skipped (--skip-llm)
- ctis·2025-525009-18-00·Authorised·A Randomized, Double-Blind, Phase 3 Study of Chemotherapy With or Without INCB161734 in Previously Untreated, KRAS G12D-Mutated Metastatic Pancreatic Ductal Adenocarcinoma (DAWN-303)
skipped — LLM skipped (--skip-llm)
- ctis·2024-516570-30-00·Authorised·A PRECISION MEDICINE RANDOMIZED TRIAL FOR PATIENTS WITH RELAPSED OR REFRACTORY T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA BASED ON A FUNCTIONAL APPROACH. ALL-TARGET TRIAL
skipped — LLM skipped (--skip-llm)
- ctis·2025-521699-71-01·Authorised·Platelet function testing in outpatients after heart transplantation on aspirin therapy
skipped — LLM skipped (--skip-llm)
- ctis·2025-521982-29-00·Authorised·UNLOCK - EPIBREAST, a phase II study of prifetrastat (PF-07248144), a KAT6 inhibitor, plus fulvestrant for advanced HR+/HER2- breast cancer with biomarkers analysis
skipped — LLM skipped (--skip-llm)
- ctis·2025-520631-17-00·Cancelled·A Study to Assess the Safety of RG6496 in Huntington’s Disease Gene Expansion Carriers with the Selected Genetic Variant (POINT-HD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-520067-13-00·Authorised·EaRly impAct theraPy with ceftazidime-avibactam via rapID diagnostics versus standard of care antibiotics and diagnostics in patients with bloodstream infection, hospital-acquired pneumonia or ventilator-associated pneumonia due to Pseudomonas aeruginosa or carbapenemase producing Enterobacterales ("RAPID")
skipped — LLM skipped (--skip-llm)
- ctis·2025-524255-32-00·Authorised·Mechanisms of Resistance to anti-PD-1 Therapy in cutaneous Squamous Cell Carcinomas: Impact of Tumor Cell Plasticity on Promoting Myeloid Suppressor Cell Infiltration. A phase II single arm, unicenter study of cemiplimab in patients with locally advanced cSCCs.
skipped — LLM skipped (--skip-llm)
- ctis·2025-524872-51-00·Authorised, ongoing·A multicentre randomized double-blind placebo-controlled 48-week superiority study to compare the efficacy and safety of rituximab versus placebo in rheumatoid arthritis-associated interstitial lung disease - the BELLRA trial.
skipped — LLM skipped (--skip-llm)
- ctis·2025-522729-36-00·Authorised, recruiting·Phase 1/2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Antiviral Activity of GS-4321 in Healthy Participants and Participants With Chronic Hepatitis Delta.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521831-35-00·Authorised, recruiting·(23026) A prospective, single-arm, Phase 4 study to evaluate the course of serum transthyretin (TTR) level with acoramidis in adult patients with variant or wild-type transthyretin amyloidosis with cardiomyopathy (ATTR-CM) previously treated with tafamidis.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523487-21-00·Cancelled·An open label, balanced, randomized, two-treatment, two-period, two-sequence, single-dose, crossover, bioequivalence study comparing Maribavir Tablets 200 mg, manufactured by Sun Pharmaceutical Industries Limited, India with LIVTENCITY® (Maribavir) Coated Tablets 200 mg, manufactured by: Catalent CTS, LLC Kansas City, United States of America, packed by: Takeda Ireland Limited Bray, Ireland, imported by: Takeda Pharma Ltda. Highway SP 340 S/N, km 133.5 Jaguariúna Administrative Building -SP CNPJ 60.397.775/0001-74 SAC: 0800 - 7710345, in healthy adult, human subjects under fasting condition.
skipped — LLM skipped (--skip-llm)
- ctis·2025-522533-54-00·Authorised, ongoing·Phase 2, Multicenter, Open label, Platform Study investigating ASP3082 in patients with Metastatic/Locally Advanced Non-Small-Cell Lung Cancer (NSCLC) and Pancreatic Ductal Adenocarcinoma (PDAC), with biomarker analysis to characterize response/resistance (UNLOCK ASP3082)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523264-21-00·Authorised, ongoing·CIRAANO: Multimodal exploration (including radiopharmaceuticals Amyvid® and Tauvid®) of theater actors, memory athletes, and patients with various memory pathologies: evaluation of mnesic strategies and their cerebral substrates, and contribution to the treatment of memory pathologies.
skipped — LLM skipped (--skip-llm)
- ctis·2024-519326-20-00·Authorised, recruiting·A phase 2, three-arm, randomized study of the efficacy of intratumorally administered L19IL2 or L19TNF or L19IL2/L19TNF, all in combination with systemic anti-PD1 pembrolizumab, in stage III and IV unresectable melanoma patients with resistance to or progressing upon anti-PD1 checkpoint inhibitors and with presence of injectable metastases
skipped — LLM skipped (--skip-llm)
- ctis·2025-522361-30-00·Authorised, recruiting·A Phase III, randomised, double-blind, placebo-controlled, parallel-group, pivotal trial to assess the efficacy and safety of sonlicromanol in adult subjects with a genetically confirmed mitochondrial DNA tRNALeu(UUR) m.3243A>G variant.
skipped — LLM skipped (--skip-llm)
- ctis·2024-518899-31-00·Authorised, ongoing·CLEOPATTRA: Effects of NNC6019-0001 versus placebo on cardiovascular outcomes in participants with transthyretin amyloid cardiomyopathy (ATTR-CM).
skipped — LLM skipped (--skip-llm)
- ctis·2025-523841-82-00·Expired·A Phase 4 Pragmatic, Randomized Trial to Evaluate the Effectiveness and Safety of mRNA-1273 Variant-Containing Vaccine Formulation Against Severe Outcomes in Adults Aged 50-64 Years Without Risk Factors for Severe COVID-19 (DAN-COVID)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522233-62-00·Authorised, ongoing·A multi-center, open-label Phase 1/2 study to evaluate the safety, efficacy, PK and PD of ONA-255 in study participants with advanced cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-522826-11-00·Authorised, ongoing·Longitudinal study with positron emission tomography using [18F]PI-2620 in primary tauopathies. Proof-of-concept study
skipped — LLM skipped (--skip-llm)
- ctis·2024-513676-18-00·Authorised·A Phase 3, Open-Label, Multicenter, Extension Study of Acoramidis in Patients with Newly Diagnosed Variant Transthyretin Amyloid Cardiomyopathy (ACT-EARLY OLE)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521209-42-00·Authorised·A biomarker enrichment trial of anti-EGFR agents in patients with advanced colorectal cancer (aCRC) with wild-type RAS and right primary tumour location (right-PTL) - ARIEL-ENGIC trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-522593-36-00·Expired·A phase IV study to investigate the immunogenicity of the Seqirus licensed MF59 adjuvanted zoonotic influenza vaccine (H5N8) in adults previously vaccinated in 2009 with the Matrix M adjuvanted virosomal influenza (H5N1) vaccine compared to H5 naïve adults.
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 Inherited 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.
("Inherited Creutzfeldt-Jakob disease" OR "Inherited CJD" OR "Creutzfeldt-Jakob disease, variant, resistance to" OR "hereditary Creutzfeldt Jacob disease") OR ("PRNP" OR "PRNP syndrome" OR "PRNP-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Inherited Creutzfeldt-Jakob disease" OR "Inherited CJD" OR "Creutzfeldt-Jakob disease, variant, resistance to" OR "hereditary Creutzfeldt Jacob disease"
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
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 (7577) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T12:00:06.917Z