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Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

Giancarlo Parenti1

  • 1Telethon Institute of Genetics and Medicine, Naples, Italy. parenti@tigem.it

EMBO Molecular Medicine
|January 6, 2010
PubMed

Insights

Enzyme replacement therapy (ERT) and pharmacological chaperone therapy (PCT) are treatments for lysosomal storage diseases (LSDs). Combining ERT and PCT may improve therapeutic outcomes for LSD patients.

Area of Science:

  • Biochemistry
  • Genetics
  • Pharmacology

Background:

  • Lysosomal storage diseases (LSDs) are genetic disorders impacting lysosomal function.
  • Enzyme replacement therapy (ERT) is an established treatment but has limitations like cost and enzyme biodistribution.
  • Pharmacological chaperone therapy (PCT) is an emerging strategy to improve mutant enzyme folding and trafficking.

Purpose of the Study:

  • To review current and emerging therapies for LSDs.
  • To discuss the strengths and limitations of ERT and PCT.
  • To explore the potential of combining therapeutic approaches.

Main Methods:

  • Literature review of existing therapeutic strategies for LSDs.
  • Analysis of the mechanisms, applications, and limitations of ERT and PCT.
  • Evaluation of recent findings on synergistic effects of combined therapies.

Main Results:

  • ERT is effective for some LSDs but faces challenges.
  • PCT shows promise for specific mutations and is advancing to clinical use.
  • Synergistic effects between PCT and ERT have been demonstrated, expanding PCT applications.

Conclusions:

  • Combination therapy holds significant potential for improving LSD treatment.
  • Future research should focus on developing integrated treatment protocols.
  • Optimizing therapeutic strategies through combined approaches is crucial for better patient outcomes.

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