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Related Experiment Videos

Enzyme replacement therapy: from concept to clinical practice.

W S Sly1

  • 1Edward A Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, 1402 S. Grand Blvd, St Louis, MO 63104, USA. slyws@slu.edu

Acta Paediatrica (Oslo, Norway : 1992). Supplement
|February 8, 2003
PubMed
Summary

Enzyme replacement therapy (ERT) has advanced significantly for lysosomal storage diseases, offering effective treatments for common conditions like Gaucher disease. However, rare disorders such as mucopolysaccharidosis type VII (MPS VII) still await this crucial therapy.

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Area of Science:

  • Biochemistry
  • Genetics
  • Medicine

Background:

  • Lysosomal storage diseases (LSDs) are a group of over 40 genetic disorders.
  • Characterized by enzyme deficiencies, leading to the accumulation of undegraded macromolecules.
  • Lysosomal engorgement and subsequent organ dysfunction are common pathological features.

Observation:

  • The first LSD was identified in the early 1960s.
  • Enzyme replacement therapy (ERT) has been developed for many LSDs.
  • Mucopolysaccharidosis type VII (MPS VII) is a rare LSD.

Findings:

  • ERT has led to effective treatments for more common LSDs, including Fabry disease and Gaucher disease.
  • Studies on MPS VII and its murine models have contributed to the development of treatments for related disorders.

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  • Despite progress, ERT is not yet available for rare LSDs like MPS VII.

    • Implications:

    • Continued research into rare LSDs is vital for developing targeted therapies.
    • Advancements in ERT offer hope for patients with previously untreatable genetic disorders.
    • Understanding the mechanisms of LSDs aids in broader therapeutic strategy development.