AI Predictive Models for Spinal Muscular Atrophy Treatment

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Solution Overview

Problem

Current treatments for spinal muscular atrophy (SMA) face challenges in predicting disease progression, selecting appropriate therapies, and identifying suitable subjects for clinical studies due to the rarity and variability of the disease, leading to delayed and ineffective interventions.

Innovation Solution

A computer-implemented method using artificial intelligence (AI) to analyze subject records, generate predictive disease progression models, and identify candidate subjects for clinical studies by transforming non-numerical data into numerical representations, enabling personalized treatment selection and clustering for effective SMA management.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If manual comparison of subject attributes is used to identify treatment schedules, then treatment personalization is improved, but time consumption and complexity increase

Engineering Contradiction:
Improvetreatment personalization accuracyVSAvoidtime to identify treatment schedule
Core Design Contradiction:
Measurement precisionVSLoss of time

Solution Approach 1:

The patent replaces manual comparison of subject attributes with an artificial intelligence system that automatically analyzes subject records, compares features, and identifies appropriate treatment schedules. This substitution of mechanical/manual processes with automated AI-based systems resolves the contradiction by maintaining high personalization accuracy while dramatically reducing time consumption.

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

Solution Approach 2:

The patent introduces an AI-based intermediary system that mediates between raw subject data and treatment decisions. This intermediary automatically processes subject records, extracts relevant features, and generates treatment recommendations, eliminating the need for direct manual comparison while preserving personalization quality.

Inventive Principle:
Principle #24Intermediary (Mediator)

2Productivity

If AI models are trained on limited SMA subject data, then model development is accelerated, but prediction accuracy deteriorates

Engineering Contradiction:
Improvemodel development speedVSAvoidprediction accuracy
Core Design Contradiction:
ProductivityVSMeasurement precision

Solution Approach 1:

The patent employs pre-trained language models that have been trained on large general corpora and can be adapted to SMA-specific tasks with limited data. This transfer learning approach allows the model to leverage knowledge from diverse domains while being fine-tuned on SMA patient records, thereby achieving accurate predictions despite limited domain-specific training data.

Inventive Principle:
Principle #6Universality (Multi-functionality)

Solution Approach 2:

The patent performs preliminary training of AI models on large general datasets before applying them to SMA-specific prediction tasks. This preliminary action enables the models to learn general patterns and relationships that can be transferred to the SMA domain, improving prediction accuracy even when SMA-specific training data is limited.

Inventive Principle:
Principle #10Preliminary action

3Ease of operation

If therapeutic intervention is delayed until symptom onset, then treatment timing is simplified, but treatment efficacy decreases

Engineering Contradiction:
Improvetreatment scheduling simplicityVSAvoidtreatment efficacy
Core Design Contradiction:
Ease of operationVSReliability

Solution Approach 1:

The patent uses AI models to predict disease progression and identify optimal treatment windows before symptom onset or early in the disease course. By performing preliminary analysis of subject records and predicting future disease trajectories, the system enables early intervention at the most effective time, improving treatment efficacy while maintaining operational simplicity through automated predictions.

Inventive Principle:
Principle #10Preliminary action

Solution Approach 2:

The patent implements a feedback mechanism where the AI system continuously monitors subject data, predicts disease progression, and adjusts treatment recommendations accordingly. This feedback loop ensures that treatment is initiated at the optimal time based on real-time subject status, thereby improving treatment efficacy while keeping the process simple through automated decision support.

Inventive Principle:
Principle #23Feedback

Data Source

PatentUS20230402180A1Techniques for generating predictive outcomes relating to spinal muscular atrophy using artificial intelligence
Publication Date: 2023.12.14 F HOFFMANN LA ROCHE INC
  • US20230402180A1 patent drawing
  • US20230402180A1 patent drawing
  • US20230402180A1 patent drawing

AI summary

Disclosed are techniques for using artificial intelligence (AI) to facilitate the treatment of subjects diagnosed with spinal muscular atrophy (SMA). Methods and systems disclosed herein relate to techniques for using AI to predict the disease progression in subjects diagnosed with SMA, detect latent commonalities across subjects with SMA to identify candidate subjects for new or existing clinical studies, and intelligently select subject-specific therapeutic treatments for treating SMA.