A novel blood test based on circular RNA biomarkers could improve the early detection of Alzheimer’s disease and identify people at risk years before symptoms develop, according to research published in Nature Medicine and highlighted by biotechnology company Circular Genomics.
The study analysed almost 2,400 participants across three independent cohorts and found that a blood-based signature of 34 circular RNAs outperformed the current leading blood biomarker, plasma pTau217, for detecting Alzheimer’s disease and predicting progression to symptomatic disease.
Researchers reported that the test achieved an area under the curve (AUC) of 0.945 for identifying biomarker-confirmed Alzheimer’s disease, compared with 0.877 for pTau217. When both biomarkers were combined, diagnostic accuracy increased further, reaching an AUC of 0.967, approaching the performance of cerebrospinal fluid testing and positron emission tomography (PET) imaging while requiring only a blood sample.
The study also demonstrated the potential of the biomarkers to identify individuals at risk before cognitive symptoms appear. Among participants who were cognitively normal at baseline, the circular RNA signature predicted progression to mild cognitive impairment or Alzheimer’s disease more accurately than pTau217 alone. For predicting symptom development within five years, the blood test achieved an AUC of 0.870, compared with 0.676 for pTau217.
Unlike existing biomarkers that primarily reflect amyloid and tau pathology, the circular RNA signature captures multiple biological pathways involved in Alzheimer’s disease, including neuroinflammation, synaptic dysfunction and amyloid precursor protein regulation. The researchers suggest this broader view of disease biology could support more personalised approaches to diagnosis and treatment.
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The findings may also have implications for clinical trials. More accurate identification of individuals likely to develop symptoms could improve participant selection, reduce trial sizes and provide more sensitive measures of treatment response.
Although the results are promising, further validation in clinical practice will be required before the technology becomes widely available. Circular Genomics said it is developing diagnostic products based on its CircPATH™ platform for Alzheimer’s disease, Parkinson’s disease and other neurodegenerative disorders.
This news item has been summarised using AI and checked by humans before publication.
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