ASURAGEN, INC. — Department of Health and Human Services SBIR Phase I: NIA

Description

Project Summary The long term goal of this project is to develop validate and commercialize a PCR based molecular test for routine Alzheimer s disease AD testing that will provide more comprehensive risk estimates for disease and offer a superior option for clinical trial assays that can help accelerate drug development This test anticipates the utility of a powerful risk marker in the TOMM gene rs or that is difficult to genotype accurately due to a variable length poly T repeat The novel single tube workflow will combine the determination of repeat polymorphisms at this locus with the detection of well established Apolipoprotein E APOE risk alleles to improve AD risk estimates The proposal is innovative in that it addresses the analytical challenges associated with the analysis of the high homology poly T polymorphism in TOMM to achieve reliable single base resolution and define reliable thresholds for risk assessment and combines this method with genotyping of the three common APOE risk alleles and Taken together this test will produce risk estimates for the vast majority of the population rather than just those with This work addresses unmet needs for more informative tools to help predict the onset of AD and inform the management of at risk individuals and or those with mild cognitive impairment that may progress to AD Once available the test is expected to improve clinical outcomes by enabling benefits from early treatment The test will also be useful as a clinical research tool to glean the full impact of TOMM and APOE on AD and other neurodegenerative disorders and to help support emerging targeted therapeutics and clinical trials Aim Combine the detection of both APOE and TOMM into a rapid and simple single test assay using Asuragen s novel AmplideX technology in conjunction with toehold hairpin primers Aim Verify the combined APOE and TOMM assay using well characterized cell line DNA defined synthetic templates and matched and blinded blood and buccal samples Future work will further the development these assays by incorporating controls interpretative software and integration consistent with a diagnostic system for risk assessment with a path to an IVD or companion diagnostic for an AD therapeutics The outcome of the assay development will be new tools that can also incorporate patient specific information to improve risk assessments and inform links between genotype and neurodegenerative phenotype Project Narrative We are developing a single molecular based test for Alzheimer s disease to assess disease relevant areas of the genes APOE and TOMM The test will be useful as an assay for clinical trials to help accelerate drug development and to help improve screening for patients with memory decline The development of the assay fulfills an unmet clinical need for need for additional biomarker tests for Alzheimer s disease