Enzyme reconstitution/replacement therapy for lysosomal storage diseases

Area of Science:

• Genetics and Molecular Biology
• Pediatric Medicine
• Pharmacology

Background:

• Lysosomal storage diseases (LSDs) are monogenic disorders often affecting children.
• These conditions serve as models for targeted therapies.
• Enzyme replacement therapy (ERT) has emerged as a key treatment strategy.

Purpose of the Study:

• To review phenotypes and recent literature on ERT for LSDs.
• To summarize outcomes of ERT for Gaucher, Fabry, Pompe diseases, and mucopolysaccharidoses.
• To highlight the importance of early diagnosis and intervention.

Main Methods:

• Literature review of recent clinical trials and studies.
• Analysis of treatment outcomes and adverse events associated with ERT.
• Phenotypic characterization of LSDs amenable to ERT.

Main Results:

• ERT effectively treats numerous manifestations of LSDs.
• Early initiation of ERT can reverse some symptoms but may not halt progression.
• ERT is generally well-tolerated, with rare severe allergic reactions.

Conclusions:

• ERT is a safe and effective treatment for several LSDs.
• Long-term outcomes of ERT require further investigation.
• Prompt identification of eligible patients is vital to prevent irreversible complications.