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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

Fabry disease

Mark Levin1

  • 1Department of Hematology and Oncology, University Hospital of New Jersey Medical School, Newark, New Jersey 07101, USA. mlevinmd@aol.com

Drugs of Today (Barcelona, Spain : 1998)
|March 3, 2006
PubMed

Insights

Fabry disease is an inherited enzyme deficiency affecting galactosidase A, leading to varied symptoms. Enzyme replacement therapy shows promise in managing and preventing disease complications.

Area of Science:

  • Genetics and rare diseases
  • Metabolic disorders
  • Enzyme replacement therapy

Background:

  • Fabry disease is a genetic lysosomal storage disorder caused by deficient alpha-galactosidase A activity.
  • This deficiency leads to the accumulation of globotriaosylceramide, impacting multiple organ systems.
  • Clinical manifestations are diverse, including neurological, cardiac, and renal complications.

Purpose of the Study:

  • To review the effectiveness of enzyme replacement therapy (ERT) in managing Fabry disease.
  • To highlight the potential of ERT in preventing disease progression and associated complications.

Main Methods:

  • Review of preclinical and clinical studies on enzyme infusion for Fabry disease.
  • Analysis of data on the efficacy of ERT in controlling disease phenotypes.

Main Results:

  • Preclinical studies indicate ERT's ability to reduce substrate accumulation.
  • Clinical trials demonstrate that enzyme infusion can effectively manage cardiac and renal manifestations.
  • ERT has shown potential in preventing the onset or worsening of neurological symptoms.

Conclusions:

  • Enzyme infusion is an effective therapeutic strategy for Fabry disease.
  • ERT plays a crucial role in controlling and preventing the diverse clinical manifestations of Fabry disease.
  • Further research should focus on long-term outcomes and personalized treatment approaches.

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