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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

[Current management of Fabry disease]

Pierre Cochat1, Aurélia Liutkus, Laurence Dubourg

  • 1Centre de référence des maladies rénales héréditaires, hôpital Edouard-Herriot, Lyon, France. pierre.cochat@chu-lyon.fr

Nephrologie & Therapeutique
|March 22, 2007
PubMed

Insights

Fabry disease, a rare genetic disorder, causes organ damage due to GL-3 buildup. Enzyme replacement therapy with agalsidase improves organ function and quality of life.

Area of Science:

  • Genetics and rare diseases
  • Lysosomal storage disorders
  • Biochemistry and metabolism

Context:

  • Fabry disease is a rare X-linked lysosomal storage disorder.
  • Characterized by globotriaosylceramide (GL-3) deposition in endothelial cells.
  • Early diagnosis is challenging due to atypical presentations.

Purpose:

  • To summarize the current understanding of Fabry disease pathophysiology and treatment.
  • To highlight the role of enzyme replacement therapy (ERT) in managing the disease.
  • To discuss the limitations of current ERT and encourage exploration of alternative therapies.

Summary:

  • Fabry disease leads to systemic complications including renal, ocular, cerebral, neurological, and cardiovascular involvement.
  • Enzyme replacement therapy using recombinant alpha-galactosidase (agalsidase) offers a safe and effective approach.
  • Agalsidase treatment promotes significant organ functional improvement and enhances quality of life by clearing GL-3 deposits.

Impact:

  • ERT with agalsidase demonstrates significant improvements in kidney and heart function.
  • The treatment improves patients' quality of life by addressing systemic manifestations.
  • Further research into alternative therapeutic strategies is warranted due to the inconvenience of current biweekly intravenous administration.

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