PrPTSE detection

Improved RT- QuIC

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

2015: 2 years / Grant: 260 000 euros

Project: The aim of the project wasto gatherseveral laboratories and propose a multicenter analysis of large numbers of CSF and human olfactory mucosae samples by using the RT-QuIC assay. Among the 6 laboratories implicated in the project “Improved RT- QuIC”, 5 are involved in the CJD diagnosis. Tests will be performed on blind samples. The ultimate goal of this program wasto validate RT-QuIC methods as a powerful ante-mortem diagnosis CJD diagnostic test.

Main results and related published data: This project was given financialsupport in 2015. Some analyses are still in progress, however some results have been recently published on olfcactory mucosa and are reported in the project “In vivo diagnosis of definite CJD”. Concerning CSF diagnosis, RT-QuIC testing was performed on 2,141 patients who had rapidly progressing neurological disorders. This determined diagnostic sensitivity and specificity in 272 cases that were autopsied. They obtained a 98.5% diagnostic specificity and 92% sensitivity of CSF RT-QuIC in this blind retrospective analysis. The results matched the 100% specificity and 95% sensitivity of a blind prospective study. Moreover, it was possible to discriminate between sCJD MM1 and MM2 and between sCJD VV1 and VV2. The power of the improved CSF RT-QuIC appeared to be higher than conventional 14-3-3 and Tau tests and could constitute a powerful tool for potential therapeutic decisions.

Diagnosis of Human Prion Disease Using Real-Time Quaking-Induced Conversion Testing of Olfactory Mucosa and Cerebrospinal Fluid Samples. Bongianni M, Orrù C, Groveman BR, Sacchetto L, Fiorini M, Tonoli G, Triva G, Capaldi S, Testi S, Ferrari S, Cagnin A, Ladogana A, Poleggi A, Colaizzo E, Tiple D, Vaianella L, Castriciano S, Marchioni D, Hughson AG, Imperiale D, Cattaruzza T, Fabrizi GM, Pocchiari M, Monaco S, Caughey B, Zanusso G. JAMA Neurol. 2016 Dec 12. doi: 10.1001/jamaneurol.2016.4614.