Bicistronic AAV Vector for ALS Gene Silencing

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Solution Overview

Problem

Current gene therapy approaches for treating motoneuron diseases like ALS require multiple viral vectors to target both astrocytes and motoneurons, which face limitations in viral load, volume restrictions, and increased immune reactions, making them unsuitable for clinical use.

Innovation Solution

A bicistronic expression vector is developed, comprising two expression cassettes with astrocyte and neuron-specific promoters, along with SOD1 silencer sequences, allowing simultaneous and specific silencing of the SOD1 gene in both cell types using a single vector, thereby overcoming the need for multiple injections and reducing regulatory hurdles.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Adaptability or versatility

If multiple viral vectors are used to target both astrocytes and motoneurons, then gene delivery coverage is improved, but device complexity and immune reaction risk increase

Engineering Contradiction:
Improvegene delivery coverageVSAvoidvector system complexity
Core Design Contradiction:
Adaptability or versatilityVSDevice complexity

Solution Approach 1:

The patent combines two separate viral vectors into a single bicistronic AAV vector that expresses both GFAP-siRNA (for astrocytes) and synapsin-siRNA (for motoneurons). This merging approach maintains the ability to target both cell types while reducing the complexity of administering and managing multiple separate vectors, thereby resolving the contradiction between delivery coverage and system complexity.

Inventive Principle:
Principle #5Merging (Combining)

Solution Approach 2:

The bicistronic vector serves multiple functions simultaneously: it delivers silencer sequences to both astrocytes and motoneurons, expresses two different siRNAs from a single construct, and reduces the number of injections required. This multi-functionality allows one vector to perform the work previously requiring multiple vectors, addressing both coverage and complexity concerns.

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

2Adaptability or versatility

If multiple viral vectors are administered, then transduction of multiple cell types is improved, but volume restrictions and injection limitations worsen

Engineering Contradiction:
Improvecell type transductionVSAvoidinjection volume
Core Design Contradiction:
Adaptability or versatilityVSVolume of moving object

Solution Approach 1:

By merging the silencer sequences for both astrocytes and motoneurons into a single bicistronic vector construct, the total injection volume is reduced. Instead of administering two separate vectors that would each require their own volume, the combined vector delivers both therapeutic functions in one injection, directly addressing the volume restriction problem.

Inventive Principle:
Principle #5Merging (Combining)

3Reliability

If multiple viral vectors are used, then therapeutic coverage is improved, but immune reaction risk increases

Engineering Contradiction:
Improvetherapeutic coverageVSAvoidimmune reaction risk
Core Design Contradiction:
ReliabilityVSObject-affected harmful factors

Solution Approach 1:

The patent merges multiple vector administrations into a single injection event. By consolidating the delivery of silencer sequences for both astrocytes and motoneurons into one bicistronic vector, the number of times the immune system is exposed to foreign viral particles is reduced, thereby lowering the cumulative immune reaction risk while maintaining comprehensive therapeutic coverage.

Inventive Principle:
Principle #5Merging (Combining)

4Manufacturing precision

If separate vectors are used for astrocytes and motoneurons, then cell-specific targeting is improved, but regulatory complexity increases

Engineering Contradiction:
Improvecell-specific targetingVSAvoidregulatory approval complexity
Core Design Contradiction:
Manufacturing precisionVSDevice complexity

Solution Approach 1:

The patent combines cell-specific targeting capabilities for both astrocytes and motoneurons into a single regulatory framework. Instead of requiring separate approvals for multiple vectors, the bicistronic construct is evaluated as one therapeutic product, simplifying the regulatory pathway while maintaining the precision of cell-specific silencing through promoter-driven expression.

Inventive Principle:
Principle #5Merging (Combining)

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 bicistronic vector achieves enhanced therapeutic efficacy by prolonging survival and preserving neuromuscular function in ALS models, with improved safety by minimizing off-target effects and maximizing transduction efficiency, demonstrating superior performance compared to single-expression cassette vectors.

Implementation Method 1

The first expression cassette comprises 'astrocyte specific promoter - posttranscriptional regulatory element - a first SOD1 silencer sequence'

Methodology Applied
Scientific EffectPromoter-driven transcription:

Implementation Method 2

the second expression cassette comprises 'neuron specific promoter - posttranscriptional regulatory element - a second SOD1 silencer sequence'

Methodology Applied
Scientific EffectPromoter-driven transcription:

Implementation Method 3

Bicistronic AAV vector for RNA interference in als

Methodology Applied
Scientific EffectRNA interference:

Data Source

PatentEP4008789B1Bicistronic AAV vector for RNA interference in als
Publication Date: 2024.07.03 ECOLE POLYTECHNIQUE FEDERALE DE LAUSANNE (EPFL)
  • EP4008789B1 patent drawingFigure 1A~1D
  • EP4008789B1 patent drawingFigure 2
  • EP4008789B1 patent drawingFigure 3(A)~3(B)

AI summary

The present invention relates to a bicistronic expression vector for silencing a gene specifically in astrocytes and neurons, comprising two expression cassettes comprising a first and a second silencer sequence, respectively, wherein the expression of said first silencer sequence within astrocytes is regulated by an astrocyte-specific promoter and the expression of said second silencer sequence within neurons is regulated by a neuron-specific promoter. In a preferred embodiment, said first and second silencer sequences are SOD1 silencer sequences. Pharmaceutical composition comprising said bicistronic vector and the use of the same in the treatment of motoneuron diseases are further described.