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Enzyme replacement therapy for Anderson-Fabry disease

Regina P El Dib1, Paulo Nascimento, Gregory M Pastores

  • 1Botucatu Medical School, Universidade Estadual Paulista (UNESP), Botucatu, Brazil. eldib@fmb.unesp.br.

The Cochrane Database of Systematic Reviews
|March 2, 2013
PubMed

Insights

Enzyme replacement therapy for Anderson-Fabry disease shows limited evidence. Agalsidase alfa improved pain, while agalsidase beta showed some biomarker improvements, but overall trial quality is poor.

Area of Science:

  • Genetics and Metabolism
  • Rare Diseases
  • Pharmacology

Background:

  • Anderson-Fabry disease is an X-linked genetic disorder affecting glycosphingolipid metabolism.
  • It leads to progressive renal insufficiency, cardiovascular complications, and reduced survival.
  • Symptomatic female carriers also experience significant health issues.

Purpose of the Study:

  • To evaluate the efficacy and safety of enzyme replacement therapy (ERT) for Anderson-Fabry disease.
  • To compare ERT with placebo, no intervention, or other treatments.
  • To synthesize evidence from randomized controlled trials (RCTs).

Main Methods:

  • Searched major databases (Cochrane Library, MEDLINE, EMBASE, LILACS) and a specialized trials register up to September 2012.
  • Included RCTs of agalsidase alfa or beta in diagnosed Anderson-Fabry disease patients.
  • Two authors independently selected trials, assessed quality, and extracted data.

Main Results:

  • Six trials with 223 participants were included.
  • Agalsidase alfa showed no significant effect on biomarkers but improved pain scores and quality of life in some analyses.
  • Agalsidase beta demonstrated significant improvements in biomarkers (kidney, heart, composite) but not mortality or pain; head-to-head comparison showed no significant difference in adverse events.

Conclusions:

  • The current evidence from six small, low-quality RCTs is insufficient to robustly support the use of agalsidase alfa or beta for Anderson-Fabry disease.
  • Further high-quality research is needed to establish the true efficacy and safety of ERT.
  • The findings highlight the need for improved trial design in rare genetic disorders.
Abstract

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