01 Feb An Improved Test for Creutzfeldt-Jakob Disease
MedicalResearch.com Interview with:
Byron Caughey, PhD
Rocky Mountain Laboratories
National Institute for Allergy and Infectious Diseases
National Institutes of Health
Hamilton, Montana 59840
MedicalResearch: What is the background for this study? What are the main findings?
Dr. Caughey: One of the challenges in dealing with various neurodegenerative protein misfolding diseases is early and accurate diagnosis. This issue is particularly important with human prion diseases such as Creutzfeldt-Jakob disease (CJD) because the causative prion agents are deadly, transmissible and unusually resistant to decontamination. A recently developed test called Real-Time Quaking-Induced Conversion (RT-QuIC) allows for highly sensitive and specific detection of Creutzfeldt-Jakob disease using human cerebrospinal fluid (CSF) or nasal brushings and is being widely implemented as a key diagnostic tool. However, the currently implemented CSF-based test takes 2.5-5 days and misses 11-23% of Creutzfeldt-Jakob disease cases. We have now markedly improved RT-QuIC analysis of human CSF such that CJD and non-CJD patients can be discriminated in a matter of hours rather than days with enhanced analytical and diagnostic sensitivity. Analysis of 11 Creutzfeldt-Jakob disease patients demonstrated that while 7 were RT-QuIC positive using the previous conditions, 10 were positive using the new assay. In these and further analyses, a total of 46 of 48 CSF samples sporadic Creutzfeldt-Jakob disease patients were positive while all 39 non-CJD patients were negative, giving 95.8% diagnostic sensitivity and 100% specificity.
MedicalResearch: What should clinicians and patients take away from your report?
Dr. Caughey: Our improved RT-QuIC assay should allow for much faster, more accurate and practical testing for Creutzfeldt-Jakob disease using patients’ CSF samples.
MedicalResearch: What recommendations do you have for future research as a result of this study?
Dr. Caughey: Future studies should be aimed at further evaluating the diagnostic utility of the RT-QuIC test using much larger numbers of CSF specimens and additional diagnostic centers. In a larger sense, the RT-QuIC assay provides a prototype for tests for misfolded protein aggregates that cause many important amyloid diseases, such as Alzheimer’s, Parkinson’s and tauopathies.
Orrú CD, Groveman BR, Hughson AG, Zanusso G, Coulthart MB, Caughey B.
mBio. 2015 Jan 20;6(1). pii: e02451-14. doi: 10.1128/mBio.02451-14.
MedicalResearch.com Interview with:, Byron Caughey, PhD, Senior Investigator, Rocky Mountain Laboratories, National Institute for Allergy and Infectious Diseases, National Institutes of Health, & Hamilton, Montana 59840 (2015). An Improved Test for Creutzfeldt-Jakob Disease MedicalResearch.com