Means and Methods for Establishing a Clinical Prognosis of Diseases Associated with the Formation of Aggregates of Aβ1-42

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This invention discloses genetic and biochemical methods to predict the clinical course and help tailor the treatment of neurodegenerative diseases characterized by amyloid-beta 1-42 (Aβ1-42) aggregation, such as Alzheimer's disease. It specifically identifies a single nucleotide polymorphism (SNP), rs62256378 (in the SUCLG2 gene), where the presence of an adenine allele is associated with a slower progression of cognitive decline. The patent also describes kits and methods for detecting this SNP and for screening compounds that might alter SUCLG2 activity, offering routes to drug development.

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• Personalized prognosis for patients diagnosed with Alzheimer's disease or related conditions with Aβ1-42 aggregation.
• Guiding treatment decisions based on predicted disease progression rate, such as choosing more aggressive therapy only for those at higher risk of rapid decline.
• Screening and identifying potential drug candidates that increase SUCLG2 activity for therapy development in neurodegenerative diseases.
• Use in clinical trials for stratifying patients by projected progression rate or as a biomarker endpoint.
• Early intervention decisions and care planning for patients and caregivers based on likely future cognitive decline.
• Genetic counseling for individuals with a family history of Alzheimer's disease.

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• Enables more accurate prognosis of disease course in Alzheimer’s and similar conditions, allowing for improved clinical management.
• Reduces overtreatment or undertreatment by enabling personalized, risk-based therapy selection.
• Facilitates earlier, targeted intervention to possibly slow disease progression and optimize quality of life.
• Provides a tool for pharmaceutical companies to screen for new therapies targeting SUCLG2.
• Supports decision-making for patients and families regarding long-term care needs and life planning based on individual risk.
• May help in understanding the biology of disease progression, especially the role of SUCLG2 and microglial function in Alzheimer’s.

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Patent Abstract

The present invention relates to novel means and methods for establishing the prediction of the course of neurodegenerative diseases such as Alzheimer's disease based on genotyping single nucleotide polymorphism rs62256378 and or at least one SNP in linkage disequilibrium therewith. Moreover a novel method for screening pharmaceutical compounds which may be useful for the treatment of AD are disclosed.