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human prion disease (TSE) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

human prion disease

MONDO:0018926

Also known as:TSEtransmissible spongiform encephalopathy

Find Clinical TrialsTrials

Overview

Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ).

Clinical Trials2 registered · 1 recruiting

Diagnosis

Biomarker and diagnostic research for human prion disease has been reported in the published literature.

Prognosis

Estimated prevalence: 1-9 in 1,000,000 (Rare).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered, 1 recruiting. Interventions under study include drug therapy. Pipeline includes 2 PHASE1. Research is sponsored by a mix of industry and academic institutions.

73 publications have been identified in PubMed for human prion disease. Research spans Basic Science / Preclinical (40%), Epidemiology / Natural History (22%), and Diagnostic / Biomarker (11%).

Research Type	Count	% of Total
Laboratory research	29	40%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 8:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:56970

GARD

Genetic and Rare Diseases Info Center

GARD:18851

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

human prion disease

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Estimating the Penetrance of PRNP Mutations in Chinese Prion Disease Patients based on the Genome Databases.

Multi-target approaches to prion disease Drug discovery: a status update.

human prion disease

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Estimating the Penetrance of PRNP Mutations in Chinese Prion Disease Patients based on the Genome Databases.

Multi-target approaches to prion disease Drug discovery: a status update.