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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Optimal therapy in Gaucher disease.

Ozlem Goker-Alpan1

  • 1Lysosomal Diseases Research and Treatment Unit, Center for Clinical Trials, O&O Alpan LLC, Springfield, VA, USA.

Therapeutics and Clinical Risk Management
|July 30, 2010
PubMed
Summary

Gaucher disease (GD) treatment faces challenges as enzyme replacement therapy is ineffective for skeletal, pulmonary, and CNS symptoms. Personalized therapies targeting multiple disease pathways are needed due to GD

Keywords:
enzyme replacement therapyglucocerebrosidasemacrophageprotein misfolding and chaperone therapysubstrate reduction therapy

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Area of Science:

  • Biochemistry
  • Genetics
  • Pharmacology

Background:

  • Gaucher disease (GD) is an inherited lysosomal storage disorder caused by glucocerebrosidase deficiency.
  • GD affects multiple organ systems, including skeletal, hematologic, and nervous systems, with varying severity.
  • Current standard therapy, imiglucerase enzyme replacement therapy (ERT), has limitations in treating specific GD manifestations.

Purpose of the Study:

  • To review the limitations of current Gaucher disease treatments.
  • To highlight the need for novel therapeutic strategies.
  • To emphasize the importance of personalized medicine for Gaucher disease.

Main Methods:

  • Literature review of Gaucher disease pathophysiology and treatment outcomes.
  • Analysis of the efficacy and limitations of imiglucerase ERT.
  • Exploration of the multifaceted pathological processes in Gaucher disease.

Main Results:

  • Imiglucerase ERT effectively addresses visceral and hematologic symptoms but shows limited efficacy in skeletal, pulmonary, and central nervous system (CNS) involvement.
  • Manufacturing issues with imiglucerase necessitate the development of alternative therapies.
  • Gaucher disease presents with diverse phenotypes due to a combination of enzyme deficiency, substrate accumulation, protein misfolding, and macrophage activation.

Conclusions:

  • Current therapies for Gaucher disease are insufficient for all manifestations.
  • The heterogeneity of Gaucher disease pathogenesis requires individualized treatment approaches.
  • Targeting multiple interacting pathways is crucial for developing effective, tailored Gaucher disease therapies.