Salt Forms of GCS Inhibitor for Lysosomal Storage Disease Treatment

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Solution Overview

Problem

Current treatments for lysosomal storage diseases and cancer often rely on enzyme replacement therapy alone, which is limited by the inability to cross the blood-brain barrier and frequent intravenous injections, while GCS inhibitors like Miglustat have limitations in efficacy and specificity.

Innovation Solution

Development of novel salt forms of (S)-Quinuclidin-3-yl (2-(2-(4-fluorophenyl)thiazol-4-yl)propan-2-yl)carbamate, specifically crystalline Forms A and B, and its salts with malate, hydroxysuccinate, and HCl, which act as potent inhibitors of glucosylceramide synthase, offering alternative therapeutic options for lysosomal storage diseases and cancer by reducing substrate accumulation and inducing apoptosis in diseased cells.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If enzyme replacement therapy is used to treat lysosomal storage diseases, then enzyme deficiency can be compensated, but the treatment cannot cross the blood-brain barrier and requires frequent intravenous injections

Engineering Contradiction:
Improvetreatment efficacyVSAvoidadministration convenience
Core Design Contradiction:
ReliabilityVSEase of operation

Solution Approach 1:

The patent introduces an oral bioavailable GCS inhibitor as a complementary treatment that can cross the blood-brain barrier, serving as an intermediary therapy to address the limitations of enzyme replacement therapy. This small molecule inhibitor provides central nervous system protection while the enzyme replacement therapy handles systemic enzyme deficiency.

Inventive Principle:
Principle #24Intermediary (Mediator)

Solution Approach 2:

The treatment approach is segmented into two distinct components: enzyme replacement therapy for systemic enzyme deficiency and oral GCS inhibitor for central nervous system protection. This segmentation allows each therapy to target its specific domain of effectiveness without being constrained by the other's limitations.

Inventive Principle:
Principle #1Segmentation

2Reliability

If GCS inhibitors like Miglustat are used to inhibit glucosylceramide synthase, then substrate accumulation can be reduced, but the efficacy and specificity are limited

Engineering Contradiction:
Improveinhibitor efficacyVSAvoidinhibition specificity
Core Design Contradiction:
ReliabilityVSManufacturing precision

Solution Approach 1:

The patent modifies the chemical parameters of existing GCS inhibitors by developing novel compounds with optimized structures. The new compounds exhibit improved potency (lower IC50 values) and enhanced specificity for GCS, reducing off-target effects while maintaining the desired inhibition of glucosylceramide synthesis.

Inventive Principle:
Principle #35Parameter changes

Solution Approach 2:

The invention creates composite therapeutic regimens by combining GCS inhibitors with enzyme replacement therapy. This composite approach leverages the substrate reduction effect of the inhibitor while the replacement enzyme addresses the underlying enzymatic deficiency, providing a more comprehensive and specific treatment strategy.

Inventive Principle:
Principle #40Composite materials

3Stability of the object's composition

If frequent intravenous injections are administered for enzyme replacement therapy, then therapeutic enzyme levels can be maintained, but treatment complexity and patient burden increase

Engineering Contradiction:
Improveenzyme level stabilityVSAvoidtreatment protocol complexity
Core Design Contradiction:
Stability of the object's compositionVSDevice complexity

Solution Approach 1:

Instead of relying solely on frequent intravenous administrations to maintain therapeutic levels, the patent inverts the approach by using an oral inhibitor that provides continuous substrate reduction. This shifts the maintenance strategy from periodic enzyme supplementation to continuous inhibition of substrate synthesis, reducing the frequency and complexity of administrations.

Inventive Principle:
Principle #13The other way round (Inversion)

Data Source

PatentEP2970250B1Salt forms of (s)-quinuclidin-3-yl (2-(2-(4-fluorophenyl)thiazol-4-yl)propan-2-yl)carbamate
Publication Date: 2021.04.21 GENZYME CORP
  • EP2970250B1 patent drawingFigure 1
  • EP2970250B1 patent drawingFigure 2
  • EP2970250B1 patent drawingFigure 3

AI summary

The present invention relates to novel salt forms of (S)-Quinuclidin-3-yl (2-(2-(4-fluorophenyl)thiazol-4-yl)propan-2-yl)carbamate useful as an inhibitor of glucosylceramide synthase (GCS) and for the treatment metabolic diseases, such as lysosomal storage diseases, either alone or in combination with enzyme replacement therapy, and for the treatment of cancer.