A review of treatment of Pompe disease in infants

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Yin-Hsiu Chien1, Wuh-Liang Hwu

  • 1Departments of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.

Biologics : Targets & Therapy
|August 27, 2009
PubMed

Insights

Pompe disease (GSD-II) is a rare genetic disorder caused by a deficit in the acid alpha-glucosidase (GAA) enzyme. Enzyme replacement therapy with alglucosidase alfa has shown promise in improving outcomes for affected infants.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Medicine

Background:

  • Glycogen Storage Disease Type II (GSD-II), or Pompe disease, results from a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA).
  • Infantile Pompe disease presents with severe hypotonia, muscle weakness, feeding difficulties, and cardiorespiratory compromise, leading to a median age at death of 8.7 months in untreated cases.

Purpose of the Study:

  • To review the history, clinical manifestations, and current treatment landscape of Pompe disease.
  • To focus on the development and efficacy of alglucosidase alfa, an enzyme replacement therapy for Pompe disease.

Main Methods:

  • Retrospective analysis of patient data to determine survival rates.
  • Review of literature on the development and clinical application of alglucosidase alfa.

Main Results:

  • Enzyme replacement therapy (ERT) with alglucosidase alfa has demonstrated significant benefits.
  • ERT has been shown to prolong survival, improve cardiac function (reverse cardiomyopathy), and enhance motor function in infants with Pompe disease.

Conclusions:

  • Alglucosidase alfa represents a significant advancement in the treatment of Pompe disease, offering improved outcomes for affected individuals.
  • Ongoing research and development are crucial for further optimizing Pompe disease management and exploring future therapeutic strategies.

Keywords:
Pompe diseasealglucosidase alfaalpha-glucosidase

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