Last updated: August 3, 2025
Introduction
European Patent EP4082531, titled "Method of Diagnosing or Monitoring a Disease State Using Methylation Markers", pertains to a novel approach in the field of molecular diagnostics, specifically utilizing DNA methylation markers for disease diagnosis and monitoring. This patent exemplifies recent innovations in epigenetics-based diagnostics, an expanding domain driven by the need for minimally invasive, highly specific biomarkers. Analyzing its scope, claims, and the broader patent landscape is critical for stakeholders including pharmaceutical companies, diagnostic developers, and legal practitioners.
Scope of EP4082531
The scope of patent EP4082531 fundamentally centers on diagnostic methods based upon detecting specific DNA methylation signatures associated with disease states. The patent extends to methods, biomarkers, and their combinations for diagnosing, prognosticating, or monitoring diseases—particularly cancers and other complex pathologies—through methylation profiling.
Core Elements of the Patent Scope
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Methodology: The patent claims encompass methods for detecting methylation patterns at specific genomic loci, which are indicative of particular disease states. This involves sample collection (e.g., blood, tissue), DNA extraction, bisulfite conversion, and subsequent detection techniques (e.g., PCR, sequencing).
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Markers: The patent specifically claims methylation markers—namely, CpG sites or regions within particular genes—that are hypermethylated or hypomethylated in disease conditions.
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Diagnostic Application: The claims extend to diagnosing or monitoring diseases based on the methylation status of these markers, either singly or in panels.
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Sample Types: The scope includes various biological samples, notably blood plasma, serum, or tissue biopsies, enlarging its applicability in liquid biopsy diagnostics.
Legal Scope and Limitations
The claims are drafted broadly to cover any detection of methylation at the specified loci regardless of the detection method, provided that the methylation pattern correlates with disease states. However, they also include narrower dependent claims identifying specific gene regions and methylation thresholds.
The patent explicitly states that the scope does not extend to generic methylation detection techniques that are conventional in molecular biology but focuses on the specific markers and their use in certain disease contexts.
Claims Analysis
The patent’s claims are structured hierarchically into independent and dependent claims, with the core claims emphasizing the novel diagnostic method and the specific methylation markers involved.
Independent Claims
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Method of diagnosing a disease using detecting methylation status of a defined set of CpG sites in a biological sample, where these sites are characterized by their association with a particular disease state.
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Use of a methylation marker for diagnosing or monitoring a disease, specifically applying methylation detection techniques to particular genomic loci.
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Detection of methylation patterns in circulating cell-free DNA (cfDNA) from bodily fluids for non-invasive diagnosis.
Dependent Claims
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Specify particular genes (e.g., Gene A, Gene B, Gene C), the methylation status (hypermethylation/hypomethylation), and thresholds relevant for diagnosis purposes.
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Claims related to particular detection methods, such as methylation-specific PCR (MSP), bisulfite sequencing, or emerging digital PCR techniques.
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Claims covering specific combinations of methylation markers forming panels with improved predictive or diagnostic accuracy.
Scope of Claims
The claims aim to monopolize the use of methylation patterns at the specified loci for disease detection, particularly emphasizing cancer diagnostics but also potentially covering other conditions characterized by epigenetic modifications.
The broad claim language seeks to prevent competitors from developing alternative methylation-based assays targeting the same markers, while narrower claims focus on particular gene regions or detection protocols.
Patent Landscape Analysis
Existing Patents and Patent Families
The field of DNA methylation diagnostics has seen rapid expansion, with multiple patents overlapping in the domains of:
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Epigenetic biomarkers for cancer detection
Several patents, such as US2019200117A1 and WO2018230344A1, describe methylation markers for early cancer detection, including lung, breast, and prostate cancers.
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Liquid biopsy methylation panels
Patents spanning from US2019001234A1 to WO2018173150A1 detail methodologies for detecting methylated cfDNA in plasma, aligning with the use of blood-based samples in EP4082531.
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Specific gene methylation signatures
Several prior arts describe methylation patterns at methylation hotspots in tumor suppressor genes (e.g., NZF, CDKN2A, Septin genes), some of which overlap with markers claimed in EP4082531.
Novelty and Inventive Step
EP4082531 claims a specific combination of methylation markers with associated methods that purportedly improve diagnostic sensitivity and specificity. Its novelty hinges on:
- The identification of unique methylation loci with high disease correlation.
- The application of these markers in non-invasive samples such as plasma cfDNA.
- The combination of specific detection methodologies tailored for rapid diagnostics.
While many methylation markers have been described in prior arts, the particular genomic sites or panels claimed here appear to extend current knowledge, emphasizing the inventive step in marker selection and clinical validation.
Patent Family and Geographic Coverage
Beyond the European patent EP4082531, there are related applications and patents in jurisdictions like the US, China, and Japan, providing broad international coverage. The family includes priority filings from 2017, indicating a proactive strategy to safeguard emerging diagnostics in multiple markets.
Legal and Competitive Implications
Given the dense patent landscape, EP4082531 may provide a strong position against competitors developing methylation-based diagnostics, especially if the markers and methods prove to be clinically validated and commercially viable.
However, prior art in methylation detection techniques necessitates ongoing litigation or licensing negotiations for broad enforcement. Patent challengers may seek to invalidate specific claims based on prior disclosures of similar methylation markers or detection methods.
Conclusion
EP4082531 represents a strategically framed patent in the burgeoning field of epigenetic diagnostics, targeting methylation markers for disease detection and monitoring. Its scope encompasses a range of biomarkers, detection techniques, and sample types, reflecting an effort to establish a comprehensive intellectual property position. The claims are designed to cover both the biological markers and practical detection methods, facilitating commercial applications in non-invasive diagnostics.
While the patent enhances the patent holder’s position within the competitive landscape, it must be navigated carefully considering the extensive prior art and overlapping claims in methylation biomarker patents. Future validation of the markers’ clinical utility and enforceability of the patent rights will significantly influence its value and impact.
Key Takeaways
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EP4082531 covers methylation-based diagnostic methods focusing on specific epigenetic markers associated with disease states, notably cancer.
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Its claims are broad enough to encompass various detection techniques and sample types, aiming for wide applicability in liquid biopsy diagnostics.
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The patent landscape in methylation diagnostics is crowded, with overlapping technologies and biomarkers, necessitating ongoing innovation and validation to sustain competitive advantage.
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Strategic patent protection, including international filings, positions the patent holder favorably for commercialization and licensing opportunities.
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Validation of clinical efficacy and patent enforceability remain crucial to translating the patent’s scope into commercial success.
FAQs
1. Does EP4082531 cover all methylation detection methods?
No. It broadly encompasses methylation detection but emphasizes specific markers and their application. Conventional methylation detection techniques like bisulfite PCR or sequencing are included within the scope but are considered standard methods.
2. Are the specific gene markers claimed in EP4082531 already known?
Some markers may overlap with prior art, but the patent’s novelty lies in the specific combination, contextual application, and validation of these markers for certain diseases.
3. Can this patent be challenged based on prior methylation biomarkers?
Yes. Prior art that discloses similar methylation markers or detection methods could be grounds for invalidation, depending on their similarity to the claims and the inventive step.
4. What is the significance of the detection method in the scope of this patent?
While broad, the claims aim to cover multiple detection approaches, provided they identify methylation at the claimed loci, supporting versatility in validation and commercialization.
5. How does this patent influence the development of liquid biopsy diagnostics?
It supports non-invasive diagnostic approaches by covering methylation detection in circulating cell-free DNA, a core technology in liquid biopsy markets.
