Peptide-Linked Morpholino Antisense Oligonucleotides for Myotonic Dystrophy

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Solution Overview

Problem

Current therapeutic agents for myotonic dystrophy type 1 (DM1) do not effectively target toxic RNA, and existing treatments are mainly supportive, lacking a systemic delivery strategy to address the disease's pathogenic RNA-mediated toxicity across multiple tissues.

Innovation Solution

Development of cationic peptide-linked morpholino antisense oligonucleotides that are systemically administered, comprising a morpholino sequence complementary to polyCUG repeat sequences in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) RNA transcript, facilitated by a cell-penetrating peptide for targeted delivery to multiple tissues.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If standard antisense oligonucleotides are used to target toxic RNA, then sequence-specific binding is achieved, but systemic delivery and tissue penetration are insufficient

Engineering Contradiction:
Improvesequence-specific bindingVSAvoidsystemic delivery
Core Design Contradiction:
ReliabilityVSEase of operation

Solution Approach 1:

The patent combines morpholino oligonucleotides with cell-penetrating peptides to create a composite therapeutic agent. The morpholino component provides sequence-specific binding to the poly(CUG) repeat tract, while the cell-penetrating peptide component enables systemic delivery and cellular uptake. This composite structure resolves the contradiction by integrating both binding reliability and delivery efficiency in a single molecule.

Inventive Principle:
Principle #40Composite materials

2Ease of operation

If supportive therapies are used to manage symptoms, then immediate symptom relief is achieved, but the underlying pathogenic RNA-mediated toxicity is not addressed

Engineering Contradiction:
Improvesymptom managementVSAvoiddisease modification
Core Design Contradiction:
Ease of operationVSReliability

Solution Approach 1:

The patent extracts and targets the root cause of the disease by designing an antisense oligonucleotide that specifically binds to the poly(CUG) repeat tract in the DMPK RNA transcript. This extraction approach removes the pathogenic element (toxic RNA) from the system, thereby addressing the underlying disease mechanism rather than merely managing symptoms.

Inventive Principle:
Principle #2Taking out (Extraction)

3Reliability

If larger oligonucleotide sequences are used to target extended polyCUG repeats, then binding coverage is improved, but cellular uptake and delivery efficiency decrease

Engineering Contradiction:
Improvebinding coverageVSAvoiddelivery efficiency
Core Design Contradiction:
ReliabilityVSProductivity

Solution Approach 1:

The patent changes the chemical parameters of the oligonucleotide by using morpholino backbone instead of traditional phosphodiester or phosphorothioate backbones. This parameter change allows the oligonucleotide to maintain stability and binding affinity while improving cellular permeability and reducing size-related delivery barriers, thereby resolving the contradiction between binding coverage and delivery efficiency.

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

The cationic peptide-linked morpholino antisense oligonucleotides effectively penetrate muscle cells, neutralize toxic RNA effects, correct splicing defects, release sequestered proteins, and alleviate myotonia, demonstrating systemic efficacy in animal models of DM1.

Implementation Method 1

a cell-penetrating peptide for targeted delivery to multiple tissues

Methodology Applied
Scientific EffectCell-penetrating peptide mechanism:

Implementation Method 2

a morpholino sequence complementary to polyCUG repeat sequences in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) RNA transcript

Methodology Applied
Scientific EffectNucleic acid base pairing:

Data Source

PatentEP2900821B1Peptide-linked morpholino antisense oligonucleotides for treatment of myotonic dystrophy
Publication Date: 2020.04.01 GENZYME CORP
  • EP2900821B1 patent drawingFigure 1a~1b
  • EP2900821B1 patent drawingFigure 2
  • EP2900821B1 patent drawingFigure 3

AI summary

Provided herein are peptide-linked morpholino (PPMO) antisense oligonucleotides that target the poly CUG repeat tract in the 3' untranslated region of the gene encoding dystrophia myotonica-protein kinase (DMPK) and methods for systemic administration of the same for the treatment of mytonic dystrophy type I (DM1).