Prospective Study Demonstrates Utility of EP-QuIC in Creutzfeldt–Jakob Disease Diagnoses

Simon, Sharon L R; Peterson, Anne; Phillipson, Clark; Walker, Jonathan; Richmond, Meika; Jansen, Gerard H.; Knox, J. David

doi:10.1017/cjn.2020.139

Cited by 4 publications

(5 citation statements)

References 8 publications

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“…All data that informed the meta-analysis are available in the public domain [11,[23][24][25][26][27][28][29][30][31][32][33][34][35][36][37]. No approval by an institutional review board or regional review board was needed because there was no use of humans for this meta-analysis.…”

Section: Ethical Approvalmentioning

confidence: 99%

“…Sufficient inter-rater reliability was achieved in the QUADAS-2 assessment (Table S4). Based on high risks of bias and poor applicability, the studies by Hamlin et al [13], Rudge et al [38], and Wang et al [39] were excluded, leaving 16 studies for further quantitative analyses [11,[23][24][25][26][27][28][29][30][31][32][33][34][35][36][37] (Table 2).…”

Section: Systematic Reviewmentioning

confidence: 99%

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Diagnostic accuracy of cerebrospinal fluid biomarkers for the differential diagnosis of sporadic Creutzfeldt–Jakob disease: a (network) meta‐analysis

Rübsamen

Pape

Konigorski

et al. 2022

Euro J of Neurology

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Background: There are no systematic reviews of cerebrospinal fluid and blood biomarkers for sporadic Creutzfeldt-Jakob disease (sCJD) in specialized care settings that compare diagnostic accuracies in a network meta-analysis (NMA). Methods:We searched Medline, Embase, and Cochrane Library for diagnostic studies of sCJD biomarkers. Studies had to use established diagnostic criteria for sCJD and for diseases in the non-CJD groups, which had to represent a consecutive population of patients suspected as a CJD case, as reference standard. Risk of bias was assessed with QUADAS-2. We conducted individual biomarker meta-analyses with generalized bivariate models. To investigate heterogeneity, we performed subgroup analyses based on QUADAS-2 quality and clinical criteria. For the NMA, we applied a Bayesian beta-binomial ANOVA model. The study protocol was registered at PROSPERO (CRD42019118830).Results: Of 2976 publications screened, we included 16 studies, which investigated 14-3-3β (n = 13), 14-3-3γ (n = 3), neurofilament light chain (NfL, n = 1), neuron-specific enolase (n = 1), p-tau181/t-tau ratio (n = 2), RT-QuIC (n = 7), S100B (n = 3), t-tau (n = 12), and t-tau/Aβ42 ratio (n = 1). Excluded diagnostic studies had strong limitations in study design. In the NMA, RT-QuIC (0.91; 95% CI [0.83, 0.95]) and NfL (0.93 [0.78, 0.99]) were the most sensitive biomarkers for the diagnosis of definite, probable, and possible sCJD cases. RT-QuIC was the most specific biomarker (0.97 [0.89, 1.00]). Heterogeneity in accuracy estimates was high between studies. Conclusions:We identified RT-QuIC as the most accurate biomarker, partially confirming currently applied diagnostic criteria. The shortcomings identified in many diagnostic studies for sCJD biomarkers need to be addressed in future studies.

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Section: Ethical Approvalmentioning

confidence: 99%

Section: Systematic Reviewmentioning

confidence: 99%

Diagnostic accuracy of cerebrospinal fluid biomarkers for the differential diagnosis of sporadic Creutzfeldt–Jakob disease: a (network) meta‐analysis

Rübsamen

Pape

Konigorski

et al. 2022

Euro J of Neurology

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“…In the literature, only 10 cases of false-positive RT-QuIC or Endpoint-QuIC with clear diagnosis have been reported (see Table 5 ). They were diagnosed with vascular dementia [ 32 ], Alzheimer’s disease [ 25 ], mixed dementia [ 19 ], and tauopathies [ 35 , 37 ], immune-mediated encephalitis [ 20 , 35 , 38 ], and amyloid-associated vasculitis [ 39 ].…”

Section: Discussionmentioning

confidence: 99%

Application of real-time quaking-induced conversion in Creutzfeldt–Jakob disease surveillance

et al. 2023

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Background Evaluation of the application of CSF real-time quaking-induced conversion in Creutzfeldt–Jakob disease surveillance to investigate test accuracy, influencing factors, and associations with disease incidence. Methods In a prospective surveillance study, CSF real-time quaking-induced conversion was performed in patients with clinical suspicion of prion disease (2014–2022). Clinically or histochemically characterized patients with sporadic Creutzfeldt–Jakob disease (n = 888) and patients with final diagnosis of non-prion disease (n = 371) were included for accuracy and association studies. Results The overall test sensitivity for sporadic Creutzfeldt–Jakob disease was 90% and the specificity 99%. Lower sensitivity was associated with early disease stage (p = 0.029) and longer survival (p < 0.001). The frequency of false positives was significantly higher in patients with inflammatory CNS diseases (3.7%) than in other diagnoses (0.4%, p = 0.027). The incidence increased from 1.7 per million person-years (2006–2017) to 2.0 after the test was added to diagnostic the criteria (2018–2021). Conclusion We validated high diagnostic accuracy of CSF real-time quaking-induced conversion but identified inflammatory brain disease as a potential source of (rare) false-positive results, indicating thorough consideration of this condition in the differential diagnosis of Creutzfeldt–Jakob disease. The surveillance improved after amendment of the diagnostic criteria, whereas the incidence showed no suggestive alterations during the COVID-19 pandemic.

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“…The EP-QuIC assay in use in Canada is similar to that of RT-QuIC, with a comparably high reported clinical sensitivity and specificity of 96% and 99%, respectively, for CJD in a study of prospectively acquired CSF samples. 3 Of particular relevance to our case is the high clinical sensitivity (i.e., low false-negative rate) of EP-QuIC. In the aforementioned study, only three false-negatives under current assay conditions were identified out of 623 submitted samples.…”

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confidence: 84%

“…In the aforementioned study, only three false-negatives under current assay conditions were identified out of 623 submitted samples. 3 While false-negative EP-QuIC results are rare, they can have profound implications on patient care; they may result in excessive additional tests, incorrect alternative diagnoses, and inaccurate prognostication resulting in undue stress to patients and caregivers.…”

mentioning

confidence: 99%

Utility of Repeat Endpoint Quaking-Induced Conversion Testing in Creutzfeldt–Jakob Disease

Dawson

Gibson

Knox

et al. 2022

Can. J. Neurol. Sci.

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Prospective Study Demonstrates Utility of EP-QuIC in Creutzfeldt–Jakob Disease Diagnoses

Cited by 4 publications

References 8 publications

Diagnostic accuracy of cerebrospinal fluid biomarkers for the differential diagnosis of sporadic Creutzfeldt–Jakob disease: a (network) meta‐analysis

Diagnostic accuracy of cerebrospinal fluid biomarkers for the differential diagnosis of sporadic Creutzfeldt–Jakob disease: a (network) meta‐analysis

Application of real-time quaking-induced conversion in Creutzfeldt–Jakob disease surveillance

Utility of Repeat Endpoint Quaking-Induced Conversion Testing in Creutzfeldt–Jakob Disease

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