Dhamidhu Eratne^1,2, Cherie Chang², Kruti Patel³, Jeff Smith³, Qiao-Xin Li⁴, Colin Masters⁴, Dennis Velakoulis^2
1The University of Melbourne; ²The Royal Melbourne Hospital; ³Walter and Eliza Hall Institute of Medicine; ⁴The Florey; 

Introduction:

Dementia is associated with unacceptable rates of misdiagnosis and years of diagnostic delay. Distinguishing neurodegenerative dementia (ND) from primary psychiatric disorders (PPD), given frequent overlapping symptoms, can be challenging. The Markers in Neuropsychiatric Disorders Study (The MiND Study) is investigating the diagnostic and wider utility of blood based biomarkers such as neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), phosphorylated tau (p-tau), as well as other markers, to improve timely and accurate diagnosis of neurodegenerative dementia (ND) and distinction from primary psychiatric disorders (PPD). This in-progress study has expanded significantly, becoming a robust platform for Australian and international collaborations.

Participants have been recruited and blood samples collected across Australia. Longitudinal clinical/diagnostic, questionnaire, cognitive, and health utilisation data is collected. Second timepoint bloods (24 months) are now underway. Samples have been analysed for NfL, GFAP, p-tau217. Ongoing studies are underway investigating genomics, neuroimaging correlates, and qualitative studies.

Results:

Findings from this ongoing study will be presented. Over 1000 participants have been recruited from diverse specialist and community settings. Partnering with public and private pathology services, blood sample collection and storage processes have been developed across most of Australia. Findings thus far include CSF and plasma NfL reference ranges, strong diagnostic utility of blood and CSF NfL to distinguish dementia from PPD, ptau217 to distinguish Alzheimer from non-Alzheimer disease with very high accuracy, and high value placed on NfL testing by participants. Numerous collaborations and sub-studies have developed, investigating cognitive, neuroimaging, genomic markers. Latest findings on performance of NfL in acute psychiatric presentations and the feasibility and performance of routine pathology platforms and analysis technologies, will be presented.

The MiND Study is large biobank and platform supporting national and international collaborations, pioneering research to lead to clinical translation, with particular focus on clinical translation in to broad clinical settings, younger onset dementia, primary care settings, and non-AD and neurodegenerative mimics such as primary psychiatric disorders. This research establishes the diagnostic utility of NfL and other biomarkers in differentiating ND from PPD. The integration of routine pathology platforms underscores the feasibility of implementing these findings in real-world clinical settings, supporting broader clinical translation. Findings so far are establishing the role, especially in younger people, for a simple blood test and precision diagnostic algorithms to improve diagnosis and care, setting the stage for future clinical translation and improved outcomes for patients, their families, clinical trials, and healthcare systems.