Two-Gene Expression Assay for AML Treatment Response Prediction

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Solution Overview

Problem

Current treatments for elderly acute myelogenous leukemia (AML) patients are challenging due to poor response rates and toxic side effects, with existing diagnostic assays unable to reliably predict the effectiveness of farnesyl transferase inhibitors (FTIs) like tipifarnib in combination with etoposide, leading to unnecessary side effects and ineffective treatments.

Innovation Solution

A diagnostic assay evaluating the expression of RASGRP1 and APTX genes using specific primers in a blood sample to determine the ratio of their expression levels, which predicts the likelihood of response to tipifarnib and etoposide treatment, allowing for personalized treatment decisions.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If conventional induction therapy is used to treat elderly AML patients, then remission rates improve, but toxic side effects increase and patient survival decreases

Engineering Contradiction:
Improveremission rateVSAvoidtoxic side effects
Core Design Contradiction:
ReliabilityVSObject-affected harmful factors

Solution Approach 1:

The patent changes the treatment parameter from conventional induction therapy to farnesyl transferase inhibitors (FTIs) combined with etoposide, specifically targeting elderly patients who cannot tolerate conventional therapy. This parameter change maintains treatment effectiveness while reducing toxic side effects through the use of alternative mechanisms of action.

Inventive Principle:
Principle #35Parameter changes

Solution Approach 2:

The patent introduces etoposide as an intermediary agent that combines synergistically with FTIs to enhance treatment effectiveness in elderly AML patients. This combination approach allows achieving remission at lower doses of individual agents, thereby reducing overall toxicity while maintaining therapeutic benefit.

Inventive Principle:
Principle #24Intermediary (Mediator)

2Reliability

If cytogenetic evaluation is performed to identify favorable sub-groups, then treatment selection improves, but diagnostic time increases

Engineering Contradiction:
Improvetreatment selection accuracyVSAvoiddiagnostic time
Core Design Contradiction:
ReliabilityVSLoss of time

Solution Approach 1:

The patent extracts and focuses on specific predictive markers (RASGRP1 and APTX gene expression ratio) from the broader cytogenetic evaluation process. By isolating these two key markers, the assay achieves rapid diagnosis without requiring the full spectrum of cytogenetic testing, thus reducing diagnostic time while maintaining treatment selection accuracy.

Inventive Principle:
Principle #2Taking out (Extraction)

Solution Approach 2:

The patent segments the complex cytogenetic evaluation into a simplified two-gene expression assay. This segmentation allows the diagnostic process to be divided into manageable components that can be performed rapidly, providing timely treatment recommendations without compromising the ability to identify favorable patient sub-groups.

Inventive Principle:
Principle #1Segmentation

3Object-affected harmful factors

If Farnesyl transferase inhibitors are used to treat elderly AML patients, then tolerance improves, but response rate decreases

Engineering Contradiction:
Improvepatient toleranceVSAvoidresponse rate
Core Design Contradiction:
Object-affected harmful factorsVSReliability

Solution Approach 1:

The patent merges FTIs with etoposide in a combination therapy approach. This merging of two agents with different mechanisms of action creates a synergistic effect that enhances the overall response rate while maintaining the tolerance benefits of FTIs in elderly patients. The combination allows achieving better outcomes than FTIs alone.

Inventive Principle:
Principle #5Merging (Combining)

Solution Approach 2:

The patent creates a composite treatment regimen combining FTIs and etoposide, where the synergistic interaction between the two agents produces enhanced therapeutic effect. This composite approach leverages the complementary properties of both drugs to achieve high response rates while maintaining patient tolerance.

Inventive Principle:
Principle #40Composite materials

4Speed

If rapid assays are developed to select treatment, then decision speed improves, but assay reliability may decrease

Engineering Contradiction:
Improvedecision speedVSAvoidassay accuracy
Core Design Contradiction:
SpeedVSReliability

Solution Approach 1:

The patent replaces complex mechanical cytogenetic analysis with a molecular biology-based gene expression assay. This substitution enables rapid detection of RASGRP1 and APTX expression levels through PCR techniques, providing fast diagnostic results while maintaining high reliability through well-validates molecular markers that directly predict treatment response.

Inventive Principle:
Principle #28Mechanics substitution (Replace mechanical system)

Applied Scientific Principles

This section explains which scientific principles are used to turn an abstract innovation direction into a practical engineering solution.

Function Achieved in This Case

The assay significantly improves the prediction of response to FTI combination therapy, increasing the overall response rate by approximately 50% and improving patient survival, while reducing unnecessary treatment with ineffective medications.

Implementation Method 1

evaluating the expression of RASGRP1 and APTX in an amplification of signals from ribonucleic acid targets using at least one primer

Methodology Applied
Scientific EffectPCR amplification:

Data Source

PatentEP3489680B1Method of determining acute myeloid leukemia response to treatment with farnesyltransferase inhibitors
Publication Date: 2024.07.03 JANSSEN PHARMA NV
  • EP3489680B1 patent drawingFigure 1A~1B
  • EP3489680B1 patent drawingFigure 2A~2D
  • EP3489680B1 patent drawingFigure 3A~3C

AI summary

The disclosed method rapidly identifies with desired accuracy AML patients, including elderly AML patients, likely to respond to treatment with a combination of a farnesyltransferase inhibitor and one or more of etoposide, teniposide, tamoxifen, sorafenib, paclitaxel, temozolomide, topotecan, trastuzumab and cisplatinum. In an embodiment, the improvements include the use of whole blood rather than the customary bone marrow sample, thus making the assay more accurate, rapid, less intrusive, less expensive as well as less painful. The method includes evaluation of a two-gene expression ratio (RASGRP1:APTX), which with a corresponding threshold, provides sufficient accuracy for predicting the response to the combination treatment. In the preferred embodiment the combination treatment combines tipifarnib (R115777, ZARNESTRA®) with etoposide. Further, the elderly AML patients identified as being likely responsive to the combination treatment with tipinifarb and etoposide have a complete recovery rate comparable to the best therapy available for younger patients.