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Therapeutic goals in the treatment of Fabry disease

Atul Mehta1, Michael L West, Guillem Pintos-Morell

  • 1The Royal Free Hospital, University College London School of Medicine, London, United Kingdom. Atul.mehta@royalfree.nhs.uk

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|October 27, 2010
PubMed

Insights

Enzyme replacement therapy (ERT) offers benefits for Fabry disease patients, stabilizing kidney function and improving cardiac and gastrointestinal issues. ERT aids in managing Fabry disease symptoms and evaluating treatment effectiveness.

Area of Science:

  • Genetics and rare diseases
  • Lysosomal storage disorders
  • Enzyme replacement therapy

Background:

  • Fabry disease is a progressive, X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency.
  • It leads to multiorgan complications including renal, cardiac, and cerebrovascular disease, impacting quality of life.
  • Women can be severely affected, highlighting the need for comprehensive management.

Purpose of the Study:

  • To propose therapeutic and symptomatic goals for Fabry disease management.
  • To establish expectations for enzyme replacement therapy (ERT).
  • To provide a framework for assessing ERT response in patients.

Main Methods:

  • Defining specific therapeutic and symptomatic goals.
  • Utilizing these goals for patient management and treatment evaluation.
  • Focusing on enzyme replacement therapy as a key intervention.

Main Results:

  • Enzyme replacement therapy (ERT) has been available since 2001.
  • Clinical trials show ERT benefits, including stabilized kidney function.
  • ERT improves cardiac structure/function, reduces neuropathic pain, and alleviates gastrointestinal problems.

Conclusions:

  • Established therapeutic goals aid in evaluating ERT effectiveness.
  • These goals are crucial for developing individualized management plans.
  • Comprehensive management is essential for improving outcomes in Fabry disease.
Abstract

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