Austin Health; Florey Institute; St Vincent’s Hospital Melbourne; University of Melbourne; Western Health
Project summaryDownload PDF
Neurofilament light (NfL) is a brain cell protein that is released into the blood as a consequence of brain cell injury. The greater and more rapid the injury, the higher the levels of NfL. Our original study showed that we can distinguish neurological and psychiatric disorders by measuring NfL in cerebrospinal fluid obtained via a lumbar puncture. It is now possible to measure NfL in blood and to make this test far more broadly available, in particular to primary care. Our primary hypothesis is that blood NfL levels will be higher in patients with neurological disorders compared to patients with primary psychiatric disorders. We will measure blood NfL levels in a range of neurological and psychiatric conditions including from primary care, where there is clinical overlap and diagnostic uncertainty (young onset dementia, focal epilepsy, unexplained neurological symptoms, treatment resistant schizophrenia, movement disorders).
Patients will be recruited from specialist services that frequently see these patient groups across our partner hospitals and primary care in Practice-Based Research Networks. In the majority of participants we will obtain single NfL measures but we aim to obtain measures at two time points for a subsample of participants from epilepsy services (before and after seizures/episodes).
This project is supported by the Australian Government’s Medical Research Future Fund (MRFF) as part of the Rapid Applied Research Translation program.
A simple screening blood test available to primary care and specialist physicians could dramatically alter clinical care: reducing the time to accurate diagnosis and allowing earlier, precision treatment, and reducing the need for expensive and time-consuming investigations, with positive outcomes for patients, families and the healthcare system.
The study showed definitive and strong preliminary findings on the strong diagnostic utility of cerebrospinal fluid and blood neurofilament light chain in distinguishing dementia (especially younger-onset) from primary psychiatric and non-neurodegenerative conditions. In addition, the results significantly increased understanding of biomarkers and underlying aetiology in a diverse range of conditions that haven’t previously been studied (e.g. treatment-resistant schizophrenia, epilepsy), and in various settings including primary care.
Project benefits include significantly increased understanding of biomarker utility in neurodegenerative dementia, neurological and psychiatric disorders, many novel and important findings, and in novel settings e.g. community/primary care, development of national blood collection network and standardised protocols to benefit ongoing research, collaborations, and future translation. This study has led to significant expansion and successful funding.
Impacts include significant long-term research and clinical collaborations, increased awareness amongst researchers and clinicians, all of this across the country and internationally, well developed infrastructure and processes to support ongoing and future collaborations, development of national blood collection network and standardised protocols to benefit ongoing research, collaborations, and future translation.
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- Eratne, D., & Velakoulis, D. (2022). Occam’s razor trumped by Hickam’s dictum: A case of a patient having as many diseases as they (darn) well please. The Australian and New Zealand Journal of Psychiatry, 56(7), 870–871. https://doi.org/10.1177/00048674211073041
- Ney, B., Eratne, D., Lewis, V., Ney, L., Li, Q.-X., Stehmann, C., Collins, S., & Velakoulis, D. (2021). The Three Glycotypes in the London Classification System of Sporadic Creutzfeldt-Jakob Disease Differ in Disease Duration. Molecular Neurobiology. https://doi.org/10.1007/s12035-021-02396-9
- Vivash, L., Malpas, C. B., Meletis, C., Gollant, M., Eratne, D., Li, Q., McDonald, S., O’Brien, W. T., Brodtmann, A., Darby, D., Kyndt, C., Walterfang, M., Hovens, C. M., Velakoulis, D., & O’Brien, T. J. (2022). A phase 1b open‐label study of sodium selenate as a disease‐modifying treatment for possible behavioral variant frontotemporal dementia. Alzheimer’s & Dementia: Translational Research & Clinical Interventions, 8(1). https://doi.org/10.1002/trc2.12299
- Walia, N., Eratne, D., Loi, S. M., Li, Q.-X., Varghese, S., Malpas, C. B., Walterfang, M., Evans, A. H., Parker, S., Collins, S. J., Masters, C. L., & Velakoulis, D. (2022). Cerebrospinal fluid neurofilament light predicts the rate of executive function decline in younger-onset dementia. Journal of the Neurological Sciences, 432, 120088. https://doi.org/10.1016/j.jns.2021.120088
ABC 7.30 Report (25 May 2021)
Early diagnosis of dementia giving hope to thousands of Australians
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