Enzyme Replacement Therapy

Enzyme Replacement Therapy

Enzyme replacement therapy (ERT) is a medical approach aimed at replacing a deficient or absent enzyme in patients. Typically, this involves administering the enzyme to the patient via intravenous (IV) infusion.

ERT is currently utilized for certain lysosomal diseases, including Gaucher disease, Fabry disease, MPS I, MPS II, MPS VI, and Glycogen storage disease type II. While ERT does not address the underlying genetic defect, it elevates the levels of the deficient enzyme in the patient's body.

By transitioning from symptomatic management to therapeutic interventions, ERT offers significant benefits in managing these disorders. Although it does not provide a cure, ERT can substantially alter or alleviate the symptoms associated with these conditions.

Treatment for lysosomal storage diseases (LSDs) is typically lifelong due to their impact on multiple organ systems. Consequently, nurses across various specialties may encounter patients with these conditions. Hence, familiarity with the diseases, the advantages and limitations of ERT, and effective management strategies is increasingly vital for all nurses.

ERT has demonstrated efficacy in addressing the non-neurological symptoms of LSDs. However, its effectiveness in diseases primarily affecting the central nervous system, such as NPA, remains uncertain. This uncertainty stems from the challenge of replacement enzymes inadequately crossing the blood-brain barrier.