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Journal Articles Annals of Clinical and Translational Neurology Year : 2020

Ring trial of 2nd generation RT‐QuIC diagnostic tests for sporadic CJD

Christina D Orrú
Bradley R Groveman
  • Function : Author
Aaron Foutz
  • Function : Author
Matilde Bongianni
  • Function : Author
Franco Cardone
  • Function : Author
Neil Mckenzie
  • Function : Author
Anna Poleggi
  • Function : Author
Daniela Perra
  • Function : Author
Michele Fiorini
Xiaoqin Liu
  • Function : Author
Anna Ladogana
  • Function : Author
Marco Sbriccoli
  • Function : Author
Andrew G Hughson
  • Function : Author
Alison J Green
  • Function : Author
Michael D Geschwind
  • Function : Author
Maurizio Pocchiari
  • Function : Author
Jiri G Safar
  • Function : Author
Gianluigi Zanusso
Byron Caughey


Objective: Real-time quaking-induced conversion (RT-QuIC) assays detect prion-seeding activity in a variety of human biospecimens, including cere- brospinal fluid and olfactory mucosa swabs. The assay has shown high diagnos- tic accuracy in patients with prion disorders. Recently, advances in these tests have led to markedly improved diagnostic sensitivity and reduced assay times. Accordingly, an algorithm has been proposed that entails the use of RT-QuIC analysis of both sample types to diagnose sporadic Creutzfeldt-Jakob disease with nearly 100% accuracy. Here we present a multi-center evaluation (ring trial) of the reproducibility of these improved “second generation” RT-QuIC assays as applied to these diagnostic specimens. Methods: Cerebrospinal fluid samples were analyzed from subjects with sporadic Creutzfeldt-Jakob (n = 55) or other neurological diseases (n = 45) at multiple clinical centers. Olfactory mucosa brushings collected by multiple otolaryngologists were obtained from nine sporadic Creutzfeldt-Jakob disease cases and 19 controls. These sample sets were initially tested blindly by RT-QuIC by a coordinating laboratory, recoded, and then sent to five additional testing laboratories for blinded ring trial testing. Results: Unblinding of the results by a third party indicated 98-100% concor- dance between the results obtained by the testing of these cerebrospinal fluid and nasal brushings at the six laboratories. Interpretation: This second-genera- tion RT-QuIC assay is highly transferrable, reproducible, and therefore robust for the diagnosis of sporadic Creutzfeldt-Jakob disease in clinical practice.
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Dates and versions

hal-04515063 , version 1 (21-03-2024)





Christina D Orrú, Bradley R Groveman, Aaron Foutz, Matilde Bongianni, Franco Cardone, et al.. Ring trial of 2nd generation RT‐QuIC diagnostic tests for sporadic CJD. Annals of Clinical and Translational Neurology, 2020, 7, pp.2262 - 2271. ⟨10.1002/acn3.51219⟩. ⟨hal-04515063⟩
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