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A novel genetic assay for risk assessment of cognitive decline in Alzheimer’s Disease

Periodic Reporting for period 1 - variaTECT (A novel genetic assay for risk assessment of cognitive decline in Alzheimer’s Disease)

Reporting period: 2019-02-01 to 2019-05-31

Dementia is one the most common cognitive disorders, although it includes various forms. Among the different dementia types, Alzheimer’s disease (AD) is the most prevalent (up to 75% of all cases) and progressively leads to complete brain dysfunction and degeneration, imposing social, psychological, and financial burden on patients afflicted by AD. AD neuropathology begins decades before the onset of observable symptoms. Initiating interventions after symptom onset may be too late to have a meaningful impact on disease course. Currently, imaging methods like Positron Emission Tomography (PET) or Magnetic Resonance Imaging (MRI) are used to detect brain changes associated with early-moderate and advanced signs of cognitive decline. Early assessment of AD can be also detected from β-amyloid in cerebrospinal fluid (CSF) (lumbar puncture) with methods in development for blood/plasma tests. However, these solutions present some unresolved issues for broad market deployment. To overcome this, Cytox developed a ground-breaking biomarker platform to stratify contemporaneously AD risk in 96 individuals by using a fast, accurate, reliable and cost-effective way to analyse specific genetic information and generate a polygenic risk score of the likelihood of an individual being at risk of developing AD. The platform is composed of the variaTECT genomic array and the SNPfitR interpretive software. During the phase 2 innovation project, Cytox will focus on the optimisation and validation the SNPfitR interpretive software performance. The clinical validation study will be used to validate the technology and for the approval to get the CE marking.
Cytox undertook a full analysis of both the technical and business potential of the variaTECT genomic test concluding that it would be highly valuable for the commercial viability. Cytox reviewed the results achieved with their initial testing to identify needed improvements to be made during the Phase 2 project. Specifically, they defined the necessary software architectural design testing and verification tasks for the validation of the interpretative software as medical diagnostic tool. The company used the feasibility study to expand their knowledge regarding key users’ requirements within hospitals and diagnostic laboratories, and regarding the clinical validation and regulatory approval required for the European market launch.
The expected outcome of the project is to successfully execute the clinical validation study and demonstrate that the value of assessing pre-symptomatic AD with high accuracy and test reproducibility. The easy to integrate variaTECT genomic test within the sample analysis workflow for population-wide screening will enable high scalability at European and global level. The variaTECT development will provide an enhanced test for assessing the genetic risk of developing AD, decrease the huge economic and societal burden of dementia and AD on the healthcare system as well as create new jobs within Cytox.
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