This deliverable reports on Case Study 1 (CS1) of Work Package 5, which tested core functionalities of the EPND platform through the operationalization of the Amyloid-Tau-Neurodegeneration (ATN) biomarker classification scheme.

CS1 assessed ATN markers in cerebrospinal fluid (CSF) and plasma across 350 participants diagnosed with Alzheimer's disease (AD), Lewy body dementia (DLB), Parkinson's disease (PD), and healthy controls, drawn from seven centres across six countries. Samples were centrally analysed at the University of Gothenburg using the Roche NeuroToolKit panel. Clinical data from all cohorts were collected in parallel and harmonized at Maastricht University.

Key findings include distinct ATN marker profiles across disease groups, with AD showing the strongest amyloid and tau signal. Moderate correlations were observed between CSF and plasma ATN markers. In a separate analysis using the Janssen pTau217 assay in 997 samples from the Amsterdam Dementia Cohort, plasma pTau217 demonstrated the highest accuracy for detecting amyloid positivity (AUC 0.92) compared to other plasma biomarkers.

The CS1 dataset is now available for external reuse via the EPND platform's AD Workbench. Learnings on data harmonization, logistics, and platform development are informing the design of future EPND case studies and platform services.

For more information, find the full “Report on ATN markers” here.