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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

[Clinical efficacy of enzyme replacement therapy in Fabry disease. A critical review]

O Lidove1, T Papo

  • 1Service de médecine interne, hôpital Bichat-Claude-Bernard, Paris cedex 18, France.

La Revue De Medecine Interne
|June 16, 2009
PubMed

Insights

Enzyme replacement therapy (ERT) shows significant clinical benefits for Fabry disease, particularly in early stages, improving heart, kidney, and pain symptoms. Further studies are needed to confirm long-term effects and benefits in specific populations.

Area of Science:

  • Biochemistry
  • Genetics
  • Pharmacology

Background:

  • Fabry disease is an X-linked lysosomal storage disorder.
  • Two enzyme alpha-galactosidase A preparations, agalsidase alpha and agalsidase beta, are available in Europe.
  • Clinical efficacy assessment is crucial due to the lack of a robust biomarker.

Purpose of the Study:

  • To review the clinical efficacy of agalsidase alpha and agalsidase beta for Fabry disease.
  • To assess the benefits of enzyme replacement therapy (ERT) based on available literature.

Main Methods:

  • A literature review was conducted.
  • Included studies were open or randomized controlled trials.
  • No direct comparison between the two drugs was found.

Main Results:

  • ERT demonstrated significant clinical benefits, especially in early disease stages.
  • Positive effects were observed on cardiac, renal, pain, and quality of life parameters.
  • No direct comparative data between agalsidase alpha and agalsidase beta exists.

Conclusions:

  • ERT provides significant clinical benefits for Fabry disease patients.
  • Further prospective studies are required to confirm long-term benefits.
  • Additional research is needed for women and earlier ERT interventions to prevent organ damage.

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