Means and Methods for the Prediction of Joint Destruction

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This patent describes a method for predicting or diagnosing joint destruction, particularly early or rapidly progressing joint destruction in rheumatoid arthritis (RA) patients, by detecting a specific genetic mutation in the interleukin-4 receptor (IL-4R) gene. Specifically, the method focuses on identifying a single nucleotide polymorphism (SNP) that results in an isoleucine to valine substitution at amino acid position 75 of IL-4R. The presence of this mutation is shown to strongly correlate with increased risk and rapid progression of joint damage in RA, enabling earlier stratification and appropriate treatment selection for patients.

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• Early diagnosis of aggressive joint destruction in rheumatoid arthritis patients using genetic testing.
• Stratification of RA patients to guide personalized treatment regimens (aggressive vs. conservative).
• Development of diagnostic kits and assays for hospitals and clinics to predict erosive joint disease.
• Clinical trial inclusion/exclusion criteria based on genetic risk for joint destruction.
• Biobank or population studies correlating IL-4R genotypes with disease outcomes.

BenefitsContent extracted from patent full text and abstract with AI.

• Allows identification of high-risk rheumatoid arthritis patients for rapid intervention before severe joint damage occurs.
• Enables more tailored, effective, and potentially less toxic treatment regimens based on genetic risk.
• Has higher predictive value for early erosive RA than commonly used markers like rheumatoid factor and HLA-DRB1.
• Can improve patient outcomes by facilitating earlier, aggressive treatment only for those at substantial risk.
• Enables cost-savings and resource optimization by avoiding unnecessary aggressive therapies for low-risk patients.
• Diagnostic methods and kits can be readily integrated into existing molecular diagnostic workflows.

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Inventors & Applicants

Patent Abstract

The present invention relates to a method of diagnosing and/or predicting joint destruction, early joint destruction and/or accelerated joint destruction in particular, in rheumatoid arthritis, comprising determining in a sample obtained from an individual the presence of at least one nucleic acid sequence encoding an IL-4 receptor (IL-4R) which contains a mutation in position 465 of the nucleotide sequence of the wild-type IL4R as shown in SEQ ID NO: 1, whereby at said position the nucleotide A is replaced or a nucleic acid sequence encoding an IL-4 receptor (IL-4R), said IL-4R comprising at position 75 as shown in SEQ ID NO: 2 a valine instead of an isoleucine. Furthermore, the invention provides for a method of diagnosing and/or predicting early joint destruction and/or accelerated joint destruction comprising determining in a sample obtained from an individual the presence of an encoded IL-4 receptor (IL-4R) which comprises at the homologous position 75 of IL-4 receptor as depicted in SEQ ID NO: 2 a mutation, said mutation comprising the exchange from an isoleucine to a valine. In addition, the present invention relates to a use of specific probes and/or primers for the preparation of a diagnostic composition for diagnosing and/or predicting early joint destruction and/or accelerated joint destruction in particular in rheumatoid arthritis.