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EpiPhaGO: Blood Test for Alzheimer’s Risk Detection
Dr Matthias Prestel, Deutsches Zentrum für Neurodegenerative Erkrankungen e. V. (DZNE); Prof. Jochen Herms, Deutsches Zentrum für Neurodegenerative Erkrankungen e. V. (DZNE); Dr Sabina Tahirovic, Deutsches Zentrum für Neurodegenerative Erkrankungen e. V. (DZNE
Deutsches Zentrum für Neurodegenerative Erkrankungen e. V. (DZNE)
Challenge
Sporadic Alzheimer’s disease (AD) is the most common form of dementia and a rapidly escalating healthcare challenge, with ~300,000 new diagnoses annually in Germany alone. Disease pathology begins more than a decade before symptoms appear, driven by early accumulation of amyloid-beta and tau aggregates and progressive dysfunction of microglia, the brain’s key immune cells responsible for protein clearance. While disease-modifying therapies targeting amyloid-beta are entering clinical practice, their benefit critically depends on intervention at pre-symptomatic stages. Current diagnostic methods (PET imaging, CSF analysis) are invasive, expensive, and unsuitable for large-scale screening. Consequently, the absence of a cost-effective, minimally invasive, and scalable early-risk test represents a major barrier to timely treatment, patient stratification, and healthcare system sustainability.
Technology
EpiPhaGO is developing a PCR-based blood test for early Alzheimer’s disease risk assessment based on epigenetic biomarkers. The assay detects disease-associated DNA methylation changes—stable regulators of gene expression—enabling sensitive, minimally invasive, and scalable risk stratification. The technology leverages the biological insight that peripheral blood macrophages exhibit Alzheimer’s-relevant dysfunctions analogous to those observed in brain-resident microglia. These immune impairments are strongly reflected in specific DNA methylation signatures. Quantification of these signatures provides a robust and early biomarker signal for AD risk, potentially years before clinical onset, using standard laboratory infrastructure.
Commercial Opportunity
Healthcare systems urgently require scalable solutions for early AD risk detection to mitigate rapidly rising costs. In Germany, dementia prevalence is projected to reach ~2.4 million individuals by 2040, with €65 billion in direct healthcare and long-term care costs and an additional €76 billion in informal care. Clinicians gain actionable risk stratification to support earlier diagnosis and personalized treatment decisions, particularly relevant as disease-modifying therapies such as Leqembi® and Kisunla become available. Central diagnostic laboratories represent a strong commercialization channel, as the test integrates seamlessly into existing PCR workflows and is supported by proprietary software for standardized analysis and reporting. Patients benefit from a minimally invasive, accessible test enabling informed medical decisions, earlier intervention, and improved long-term disease management.
Development Status
In a screening study of 88 Alzheimer’s disease patients and healthy controls, genome-wide DNA methylation profiling using next-generation sequencing identified disease-specific epigenetic signatures. Machine-learning analysis reliably differentiated AD patients from controls. These results enabled development of a targeted epigenetic biomarker panel forming the basis of a quantitative PCR assay. The test measures selected differentially methylated positions with high sensitivity using custom predictive probes and generates a quantitative AD risk score to guide early risk stratification and follow-up diagnostics.
Patent Situation
No patents filed to date; proprietary probe design and method-in-use protection planned.
Further Reading
Colombo A. et al., Nat Commun, 2021 Dinkel L. et al., Sci Transl Med, 2024 De Roeck A. et al., Acta Neuropathol, 2019 Podlesny-Drabiniok A. et al., Trends Neurosci, 2020 Magin P. et al., Int J Geriatr Psychiatry, 2016
