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

Starting date
January 31, 2016
Duration (months)
24
Departments
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.
 
 
AIMS
  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.

Sponsors:

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

Activities

Research facilities