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Enzyme replacement therapy: efficacy and limitations.

Daniela Concolino1, Federica Deodato2, Rossella Parini3,4

  • 1Department of Medical and Surgical Science, Pediatric Unit, University "Magna Graecia", Catanzaro, Italy.

Italian Journal of Pediatrics
|November 17, 2018
PubMed
Summary
This summary is machine-generated.

Enzyme replacement therapy (ERT) effectively treats some mucopolysaccharidoses (MPS) by reducing GAGs and organ size. However, ERT shows limited efficacy for bone, cartilage, and central nervous system issues, necessitating further research for comprehensive MPS treatment.

Keywords:
ERTEnzyme replacement therapyMPSMucopolysaccharidosis

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Enzyme replacement therapy (ERT) is an established treatment for specific types of mucopolysaccharidoses (MPS), including MPS I, MPS II, MPS VI, and MPS IVA.
  • Long-term follow-up studies have assessed ERT efficacy in MPS I, MPS II, and MPS VI, providing valuable data on its effectiveness and limitations.

Purpose of the Study:

  • To evaluate the efficacy and limitations of current enzyme replacement therapy (ERT) for various types of mucopolysaccharidoses (MPS).
  • To discuss alternative treatments and future directions, including stem cell transplantation and neonatal screening, for improving patient outcomes.

Main Methods:

  • Review of clinical trials and post-marketing studies evaluating ERT in MPS patients.
  • Analysis of ERT's impact on biochemical markers (urinary GAGs), organ volumes, and specific tissue penetration.
  • Consideration of factors affecting ERT efficacy, such as antibody formation and blood-brain barrier penetration.

Main Results:

  • ERT effectively reduces urinary glycosaminoglycans (GAGs) and liver/spleen volumes in MPS patients.
  • Cartilaginous organs, bones, and eyes show limited improvement with ERT due to poor tissue penetration.
  • ERT does not cross the blood-brain barrier, leaving the central nervous system untreated, which is critical for severe MPS forms with cognitive decline.

Conclusions:

  • While ERT offers benefits for certain MPS manifestations, its limitations in treating skeletal, ocular, and neurological aspects necessitate alternative or adjunctive therapies.
  • Hematopoietic stem cell transplantation is considered the gold standard for severe MPS I (Hurler syndrome), though its role in MPS II is debated.
  • Early, possibly pre-symptomatic, treatment through neonatal screening is recommended to improve prognosis for treatable MPS, with ongoing studies exploring its potential.