Recombinant Acid Alpha-Glucosidase Formulation Stability

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Solution Overview

Problem

Current formulations for recombinant acid α-glucosidase, such as those used in enzyme replacement therapy for Pompe disease, face challenges in preserving enzyme activity and concentration during storage and transportation, due to the complexity and delicacy of the enzymes, which can lead to costly and inefficient treatment.

Innovation Solution

A pharmaceutical formulation comprising recombinant acid α-glucosidase expressed in Chinese hamster ovary (CHO) cells with an increased content of N-glycan units bearing one or two mannose-6-phosphate residues, combined with specific buffers like citrate and excipients like mannitol and polysorbate 80, maintained at a pH of 5.0 to 7.0, to enhance stability and targeting efficiency.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If recombinant acid α-glucosidase is stored and transported in conventional formulations, then the enzyme can be delivered to patients, but enzyme activity and concentration are lost due to improper preservation

Engineering Contradiction:
Improveenzyme activity preservationVSAvoidenzyme concentration loss
Core Design Contradiction:
ReliabilityVSLoss of energy

Solution Approach 1:

The patent changes the chemical parameters of the formulation by specifying a pH range of 5.0-7.0 and incorporating specific buffers (citrate, phosphate) and excipients (mannitol, polysorbate 80). These parameter modifications create an optimized environment that preserves enzyme activity and prevents degradation during storage and transportation.

Inventive Principle:
Principle #35Parameter changes

Solution Approach 2:

The patent introduces intermediary substances including buffers and excipients that act as protectors between the enzyme and harmful environmental factors. These intermediaries maintain stable conditions and prevent direct exposure to conditions that would degrade enzyme activity.

Inventive Principle:
Principle #24Intermediary (Mediator)

2Ease of manufacture

If recombinant acid α-glucosidase is prepared and formulated, then enzyme replacement therapy can be administered, but the complex and delicate nature of the enzyme makes formulation difficult

Engineering Contradiction:
Improveformulation developmentVSAvoidformulation complexity
Core Design Contradiction:
Ease of manufactureVSDevice complexity

Solution Approach 1:

The patent simplifies formulation development by establishing specific parameter ranges (pH 5.0-7.0) and identifying key components (buffers, excipients). These parameter specifications provide clear guidance for manufacturing while maintaining enzyme stability, reducing the complexity of formulation development.

Inventive Principle:
Principle #35Parameter changes

3Productivity

If recombinant acid α-glucosidase is administered to patients, then therapeutic effect is achieved, but high quantities are required making treatment costly and inefficient

Engineering Contradiction:
Improvetherapeutic efficacyVSAvoidenzyme dosage
Core Design Contradiction:
ProductivityVSQuantity of substance

Solution Approach 1:

The patent improves treatment efficiency by creating a formulation that maximizes enzyme stability and activity, reducing the quantity of enzyme needed per dose. This allows for more cost-effective treatment while maintaining therapeutic efficacy, as the enzyme remains active longer and requires lower dosages.

Inventive Principle:
Principle #27Cheap short-living objects (Disposable)

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 formulation effectively maintains enzyme activity and concentration, improving the delivery of recombinant acid α-glucosidase to target tissues, thereby enhancing the therapeutic efficacy and reducing non-productive clearance, leading to better glycogen breakdown and clinical outcomes for Pompe disease patients.

Implementation Method 1

Acid α-glucosidase is involved in the metabolism of glycogen, a branched polysaccharide which is the major storage form of glucose in animals, by catalyzing its hydrolysis into glucose within the lysosomes.

Methodology Applied
Scientific EffectHydrolysis: Hydrolysis

Implementation Method 2

at least one buffer selected from the group consisting of a citrate, a phosphate and combinations thereof; wherein the formulation has a pH of from about 5.0 to about 7.0

Methodology Applied
Scientific EffectpH buffering:

Data Source

PatentEP4098274A1Formulations comprising recombinant acid alpha-glucosidase
Publication Date: 2022.12.07 AMICUS THERAPEUTICS INC
  • EP4098274A1 patent drawingFigure 1A~1B
  • EP4098274A1 patent drawingFigure 2A~2B
  • EP4098274A1 patent drawingFigure 3A~3B

AI summary

Provided are pharmaceutical formulations comprising a recombinant acid α-glucosidase, wherein the recombinant acid α-glucosidase is expressed in Chinese hamster ovary (CHO) cells and comprises an increased content of N-glycan units bearing one or two mannose-6-phosphate residues when compared to a content of N-glycan units bearing one or two mannose-6-phosphate residues of alglucosidase alfa; at least one buffer selected from the group consisting of a citrate, a phosphate and combinations thereof; and at least one excipient selected from the group consisting of mannitol, polysorbate 80, and combinations thereof, wherein the formulation has a pH of from about 5.0 to about 7.0. Also provided are methods of treating Pompe disease using these pharmaceutical formulations.