Important clinical evaluation of pioneering approach for risk assessment
8 March 2018: Oxford & Manchester, UK. Cytox, an emerging precision medicine leader providing genetic testing for Alzheimer’s disease, is pleased to announce that, in partnership with Cardiff University, the company has been awarded funding by Innovate UK. The award is £800,000 ($1.3m) out of a total project value of £1m ($1.6m) over two years.
The project, ‘The development and implementation of polygenic risk scoring algorithms for stratifying individuals for future cognitive decline due to Alzheimer's Disease in non-symptomatic and early cognitive impaired subjects’, will evaluate and validate the clinical utility of a customised genetic variation (single nucleotide polymorphism, SNP) panel associated with the development of Alzheimer's disease (AD). The team comprises Professor Valentina Escott-Price and Professor Julie Williams of Cardiff University and Cytox.
“We are delighted to be awarded further funding by Innovate UK,” commented Dr Richard Pither, CEO Cytox, “The previous award in 2015 has enabled support for projects to date, and the subsequent commercialisation has been pivotal to the growth of the company. This new funding reaffirms the validity of our approach in this highly important area. We are also pleased to be collaborating with Cardiff University. We have been working with Professor Valentina Escott-Price, as our AD statistical expert for a few years now, and welcome Professor Julie Williams, who is of course pre-eminent in the field of Alzheimer’s disease genetics research and currently one of the four leaders of the IGAP genetics consortium.”
Mild cognitive impairment (MCI) may be a prodromal state for AD and 50-60% of these patients are at high risk of progression to AD, however current prognostic methods for AD are only 25-30% accurate in early MCI. The lack of validated biomarkers hampers clinical management of these patients and also the development of new therapies useful in AD. It is the intent of the project to develop, optimise and test a set of polygenic risk score (PRS) approaches and then implement them on Cytox's own proprietary software platform. Subsequently the algorithms will be tested in large cohorts of patients and cognitively normal subjects, such as the recently well characterised 500 patient subset of the 1946 birth cohort, to demonstrate the validity of a panel of identified at-risk AD biomarkers. The project aim is to confirm that a proprietary SNP panel and associated algorithm is an effective method for predicting the presence of AD pathology. Such a prognostic test is essential to enable meaningful clinical trials of emergent AD therapies.
Cytox has developed this genetic prognostic research test to predict with a very high degree of accuracy the risk of someone developing AD many years before the first signs. Developed in collaboration with Thermo Fisher Scientific, Cytox’s breakthrough approach interrogates over 130,000 SNP biomarkers found on the research use variaTECT™ array used in combination with analysis by its proprietary SNPfitR™ interpretive software for PRS for assessing AD onset risk, including those with negative ApoE4 genotypes. Further PRS algorithms have now been optimised for identifying true amyloid positivity and true amyloid negativity, thus offering the potential to match performance to the specific needs of a clinical research study. The test is available globally as a service for all pharma, biotech and research labs working in this area to stratify samples obtained from subjects who are pre-symptomatic or showing MCI and are at risk of developing AD.