Quanterix’ Simoa Technology Powers Largest and Most Diverse Global Investigation of Plasma Neurofilament Light’s Role in Dementia Diagnosis
Ultra-sensitive biomarker platform delivers comprehensive evaluation of plasma NfL’s utility across 13 neurodegenerative disorders, Down syndrome and depression
“NfL is a widely recognized biomarker for measuring axonal injury and neuronal death, but current testing techniques in cerebral spinal fluid are invasive and painful, limiting its full potential for routine care,” said
For this study, 2269 total individuals were examined from two independent multicenter cohorts from King’s College London and the Swedish BioFINDER study using the Simoa platform and Quanterix’ in-house assays. The research team analyzed the distribution of plasma NfL in cognitively unimpaired (CU) individuals; the Alzheimer’s Disease (AD) continuum and a broad cross-section of other neurodegenerative disorders; Down syndrome and depression. The ultra-sensitive biomarker platform enabled the team to further inspect the accuracy, sensitivity and specificity of blood based NfL in differentiating neurodegenerative disorders from each other and CU individuals. Finally, the study uncovered new evidence to determine and validate age-related concentration cutoffs for plasma NfL across the range of disorders under observation.
Findings from the research corroborate the correlation between major neurodegenerative disorders and increased plasma NfL concentrations on an unprecedented scale. The study adds further credibility to suggestions that plasma NfL can be clinically useful in differentiating between neurodegenerative conditions and identifying or eliminating it as a cause of cognitive symptoms. Notably, the authors of this paper demonstrate the use of plasma NfL to differentiate atypical parkinsonian disorders from Parkinson’s Disease (PD), identify dementia in Down syndrome patients, distinguish neurodegenerative disorders from depression, and potentially, identify frontotemporal dementia (FTD) in patients with cognitive impairment. Lastly, the study offers important new data on the relationship between age and NfL’s diagnostic reliability, demonstrating superior detection capabilities in individuals younger than 65 than those above this threshold. This allowed the research team to formulate data-driven concentration cutoffs that give relatively low false positives of abnormal plasma NfL and support the use of the marker in disorders with a younger age of onset, such as Early-Onset Alzheimer’s Disease (EOAD), Amyotrophic Lateral Sclerosis (ALS) and FTD.
“We believe this study offers the most in-depth analysis of plasma NfL’s strengths and areas of opportunity to date,” said
“This study is an important milestone for precision health and comes at a time of renewed vigor to bring treatments for intractable dementias over the goal line,” continued Hrusovsky. “It is our firm belief that blood biomarkers will continue to play a vital role in this future as important tools for identifying neurodegeneration, distinguishing it from other cognitive conditions, and serving as a confirmatory measure for healthcare professionals to determine patients’ clinical trial prospects and the value of newly approved therapies.”
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