Multi-center evaluation of improved RT-QuIC diagnostic assays for Creutzfeldt-Jakob and other human prion diseases

Starting date
January 31, 2016
Duration (months)
Neurosciences, Biomedicine and Movement Sciences
Managers or local contacts
Zanusso Gianluigi

Fast, definitive diagnosis of Creutzfeldt-Jakob disease (CJD) is important in assessing patient care options and transmission risks. Real-Time Quakink-Induced Conversion (RT-QuIC) assays of cerebrospinal fluid (CSF) have proven to be valuable in distinguishing  CJD from non-CJD conditions. We have recently described an improved RT-QuIC assay which increases sensitivity and reduces testing time from days to hours. We have also reported initial evidence suggesting that highly accurate CJD diagnoses can be obtained from RT-QuIC analyses of olfactory mucosal (OM) brushings. Both of these promising new adaptations of the RT-QuIC technology require further evaluation and validation using much larger sample sets that are collected and/or tested by multiple laboratories. Thus, we propose a multicenter effort to collect and /or analyze large numbers of additional CSF and OM specimens from both CJD and non-CJD patients. The diagnostic sensitivities and specificities of these new RT-QuIC assays will be compared to other diagnostic indices from these patients. In addition, we plan to have seven major prion disease centers collect and/or provide samples from patients; six centers also are diagnostic laboratories, and will test the same large set of blinded CSF and OM samples. This project should provide a broad-based assessment of the accuracy, robustness and ease of implementation of these new state-of-the-art antemortem CJD diagnostic tests.
  1. To implement a multi-site evaluation and comparison of the improved (IQ-CSF) and previous (PQ-CSF) RT-QuIC tests for discriminating patients with CJD and non-CJD patients using CSF samples.
  2. To evaluate the diagnostic utility of previous (PQ-OM) and improved (IQ-OM) RT-QuIC tests for discriminating patients with CJD and non-CJD patients using nasal brushings.
  3. To compare the sensitivity, specificity, repeatability and reproducibility of the IQ-CSF and OM-based RT-QuIC tests with existing diagnostic methods for human prion diseases.


Fondation pour la Recherche Médicale
Funds: assigned and managed by the department

Project participants

Gianluigi Zanusso
Associate Professor
Research areas involved in the project
Clinical Neurology


Research facilities