Enzyme replacement therapy: from concept to clinical practice.

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.
• 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.