Peripheral AAV9 Injection for Motor Neuron Gene Delivery

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Solution Overview

Problem

Current methods for treating motor neuron disorders, such as spinal muscular atrophy and amyotrophic lateral sclerosis, are hindered by the blood-brain barrier, making it difficult to deliver therapeutic genes to motor neurons, and existing gene transfer strategies are invasive and inefficient.

Innovation Solution

The use of recombinant AAV vectors, specifically self-complementary AAV9 vectors, for peripheral injection, which bypass the blood-brain barrier and achieve widespread transduction of motor neurons and other CNS cells through intramuscular, intraperitoneal, or intravenous delivery, allowing for non-invasive gene delivery to the spinal cord.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If direct injection of viral vectors into the CNS parenchyma is used, then gene delivery to motor neurons is achieved, but the surgical procedure becomes invasive and difficult to apply clinically

Engineering Contradiction:
Improvegene delivery efficiencyVSAvoidinvasiveness of procedure
Core Design Contradiction:
ReliabilityVSEase of operation

Solution Approach 1:

The patent uses retrograde axonal transport as an intermediary mechanism to deliver viral vectors from peripheral injection sites to motor neurons in the CNS, avoiding direct invasive injection into the brain parenchyma while achieving effective gene delivery

Inventive Principle:
Principle #24Intermediary (Mediator)

2Reliability

If intrathecal or direct spinal cord injection is used, then motor neuron transduction is achieved, but widespread CNS transduction is not produced

Engineering Contradiction:
Improvemotor neuron transductionVSAvoidwidespread CNS transduction
Core Design Contradiction:
ReliabilityVSAdaptability or versatility

Solution Approach 1:

The patent employs AAV vectors with capsids engineered for broad tissue tropism, enabling a single peripheral injection to achieve transduction across multiple CNS regions including motor neurons, spinal cord, brainstem, and cortical areas, thus providing both targeted and widespread transduction

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

3Reliability

If retrograde axonal transport of viral vectors is used, then motor neuron transduction is achieved, but the large number of injection sites and viral particles required reduces clinical value

Engineering Contradiction:
Improvemotor neuron transductionVSAvoidnumber of injection sites
Core Design Contradiction:
ReliabilityVSDevice complexity

Solution Approach 1:

The patent combines multiple delivery routes (intramuscular, intraperitoneal, intravenous) into a unified peripheral injection strategy that leverages retrograde axonal transport, allowing a single or limited number of injection sites to achieve widespread CNS transduction without requiring multiple separate procedures

Inventive Principle:
Principle #5Merging (Combining)

4Ease of operation

If peripheral injection of AAV vectors is used, then non-invasive delivery is achieved, but bypassing the blood-brain barrier is unexpected and requires specific vector characteristics

Engineering Contradiction:
Improvenon-invasive deliveryVSAvoidblood-brain barrier penetration
Core Design Contradiction:
Ease of operationVSReliability

Solution Approach 1:

The patent utilizes specific AAV capsid serotypes (particularly AAV9) with engineered properties that enable them to penetrate the blood-brain barrier when administered peripherally, achieving reliable CNS transduction through non-invasive routes by modifying the vector's physical and biological parameters

Inventive Principle:
Principle #35Parameter changes

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

This method enables efficient and widespread gene delivery to motor neurons and other CNS cells, providing a new avenue for treating motor neuron diseases without the need for invasive procedures and offers broad gene delivery to the spinal cord and other nervous cells.

Implementation Method 1

Gene vectors such as adenovirus, adeno-associated vector (AAV) or equine-anemia viruses pseudotyped with the rabies G glycoprotein (EIAV) indeed undergo retrograde transport along the MN axons after i.m. injections

Methodology Applied
Scientific EffectRetrograde axonal transport:

Implementation Method 2

peripheral injection of AAV vectors leads to a bypass of the blood brain barrier and a massive infection of motor neurons

Methodology Applied
Scientific EffectBlood-brain barrier bypass:

Data Source

PatentEP2212424B2Widespread gene delivery to motor neurons using peripheral injection of AAV vectors
Publication Date: 2023.11.01 GENETHON
  • EP2212424B2 patent drawingFigure 1a~1c
  • EP2212424B2 patent drawingFigure 2a~2d
  • EP2212424B2 patent drawingFigure 3a~3h

AI summary

The present invention relates to compositions and methods, in particular to methods based on systemic injection of rAAV, for delivering genes to cells of the central nervous system in mammals, such as brain neurons or glial cells, and in particular to motor neurons or glial cells of the spinal cord The invention also relates to methods of treating motor neuron disorders in mammals by expression of therapeutic genes. The invention stems from the unexpected discovery that peripheral injection of AAV vectors leads to a bypass of the blood brain barrier and a massive infection of motor neurons. The invention may be used in any mammal, including human subjects.