Cytox launches breakthrough genetic biomarker research assay for Alzheimer’s disease risk assessment
Simple blood-based test will help reduce screening failure in clinical trials and assist drug discovery
Oxford, UK. Cytox Ltd, an innovative developer of assays for risk assessment and prediction of dementia, has announced the launch of its research use variaTECT™ genetic biomarker test for assessing Alzheimer’s disease (AD) risk. The variaTECT™ SNP (single nucleotide polymorphism) array offers a simple blood-based research test providing a comprehensive panel of AD informative SNPs to assist research and novel drug discovery studies and can help users in the pharmaceutical industry reduce the screening failure rate in finding amyloid positive subjects for recruitment into clinical trials, offering potential for huge savings in cost and time. Developed in partnership with Affymetrix, a part of Thermo Fisher Scientific, the array is to be marketed as the Axiom® Dementia Research Array and comprises the variaTECT™ SNP panel designed on an Affymetrix Axiom® Genotyping Array and processed on an Affymetrix GeneTitan® Multi-Channel Instrument.
Dr Richard Pither, CEO of Cytox, commented “variaTECT is currently the most comprehensive research panel available for the detection of AD informative SNPs. Our studies show the assay has an accuracy of greater than 80%, with high positive and negative predictive values for the amyloid status of test subjects. The variaTECT array can be used together with our new SNPfitR™ software to enrich amyloid-positive cohorts and so reduce screening failure rates in early symptomatic (Mild Cognitive Impairment – MCI) and pre-symptomatic subject groups. After many disappointments and failures in drug trials, pharma companies have a need for earlier stage subjects for inclusion in clinical trials – these are hard to find. variaTECT SNP testing and SNPfitR analysis is easy to administer and provides a high degree of accuracy; in doing so, it dramatically reduces the screening failure rate and current associated costs of testing for amyloid positivity using PET amyloid or CSF examinations, which are not well-suited for high volume screening. variaTECT simply requires gDNA, which can be obtained, for example, from blood samples or a clinical sample archive. This simple, accurate test, utilising a successful Affymetrix platform, provides new tools to progress academic research, and together with our SNPfitR software will be ideal in drug discovery, clinical research or to assist pharma companies in stratifying subjects for early stage clinical trials or companion diagnostic development.”
Professor John Hardy, Chair of Molecular Biology of Neurological Disease, UCL Institute of Neurology, London, a key member of a Cytox-academic research consortium, added “For Alzheimer therapy to work effectively, we need to start to treat the disease very early. Genetic analysis is the most effective way of deciding who should be assessed for early disease. For this, we need to achieve an AUC of close to 80% ….and this is just where the current array performs.”
Comprising approximately 130,000 novel and known SNP variants in genes pertaining to pathways implicated in AD aetiology, the variaTECT SNP array has been developed from an extensive research effort involving world leading experts. A combination of whole exome association analysis (testing protein-encoding genetic variants across the genome in highly selected and characterised clinical samples), variations identified through Genome Wide Association studies and variants considered to be of importance in AD-associated biological pathways, are included on the variaTECT array. Disease risk prediction modelling has been further applied to quantify the utility of the associated variants. The assay has been developed in conjunction with Cytox’s SNPfitR software and polygenic risk score algorithm. A Cytox-led consortium was awarded funding by the UK’s innovation agency, Innovate UK, in 2015 and Cytox has partnered with leading researchers worldwide to analyse and test the panel on highly characterised patient populations in validation studies. Cytox will be presenting this data and showcasing the variaTECT SNP array and SNPfitR software and polygenic risk score algorithm, together with Affymetrix, at AAIC 2016 in Toronto, on booth # 822.