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Enzyme replacement for lysosomal diseases

Roscoe O Brady1

  • 1Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1260, USA. bradyr@ninds.nih.gov

Annual Review of Medicine
|January 18, 2006
PubMed

Insights

Enzyme replacement therapy (ERT) has become a highly effective treatment for Gaucher disease, a prevalent metabolic disorder. This success has paved the way for ERT in other lysosomal storage disorders, with ongoing advancements in the field.

Area of Science:

  • Biochemistry
  • Genetics
  • Pharmacology

Background:

  • Sphingolipid storage disorders stem from enzymatic defects identified in the 1960s.
  • Early therapeutic considerations focused on enzyme supplementation or replacement strategies.
  • Significant research and novel protein targeting were necessary to develop effective treatments.

Purpose of the Study:

  • To review the current status of enzyme replacement therapy (ERT) for lysosomal storage disorders.
  • To discuss anticipated future developments in ERT for these conditions.

Main Methods:

  • Review of historical research and clinical data on ERT.
  • Analysis of therapeutic outcomes in Gaucher disease.
  • Examination of the extension of ERT to other lysosomal storage disorders.

Main Results:

  • Enzyme replacement therapy (ERT) demonstrated extraordinary effectiveness in Gaucher disease, a common metabolic storage disorder.
  • The success in Gaucher disease facilitated the application of ERT to other lysosomal storage disorders.
  • Current ERT approaches represent a significant advancement in managing these genetic conditions.

Conclusions:

  • Enzyme replacement therapy is a proven and effective treatment for specific lysosomal storage disorders.
  • Continued research promises further advancements and broader applications of ERT.
  • The field is evolving, with ongoing developments expected to improve patient outcomes.

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