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Related Experiment Video

Updated: Nov 5, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Current and experimental therapeutics for Fabry disease.

Vanessa Castelli1, Cosimo Andrea Stamerra1, Michele d'Angelo1

  • 1Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.

Clinical Genetics
|May 17, 2021
PubMed
Summary

Fabry disease (FD) is a rare genetic disorder affecting glycosphingolipid metabolism. Experimental models are crucial for understanding FD pathogenesis and optimizing current and future therapies.

Keywords:
Fabry diseaseenzyme replacement therapyin vitro modelsin vivo modelslysosomal storage disordertherapeutic approaches

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Area of Science:

  • Genetics and rare diseases
  • Metabolic disorders
  • Lysosomal storage diseases

Background:

  • Fabry disease (FD) is a rare, X-linked lysosomal storage disorder caused by GLA gene mutations, leading to alpha-galactosidase A deficiency.
  • FD affects glycosphingolipid metabolism, presenting with classical (severe, early-onset) and non-classical (milder, late-onset) phenotypes.
  • Complications include renal failure, cardiovascular issues, and neuropathy, impacting both males and females across ethnicities.

Purpose of the Study:

  • To review current clinical trials for Fabry disease therapies.
  • To focus on the role of in vitro and in vivo experimental models in understanding FD.
  • To highlight how these models can improve existing treatments and guide new therapeutic development.

Main Methods:

  • Review of existing clinical trial data for Fabry disease.
  • Analysis of in vitro experimental models for FD.
  • Evaluation of in vivo experimental models for FD.

Main Results:

  • Clinical trials have explored various therapeutic approaches for FD.
  • Experimental models provide insights into the pathogenesis and mechanisms of FD.
  • These models are instrumental in evaluating therapeutic efficacy and exploring novel treatment strategies.

Conclusions:

  • In vitro and in vivo models are essential for advancing the understanding of Fabry disease.
  • Optimizing current therapies and developing new treatment options for FD rely on these experimental systems.
  • Further research using these models will enhance therapeutic strategies for patients with Fabry disease.