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New therapeutic approaches for Pompe disease: enzyme replacement therapy and beyond.

Publication ,  Journal Article
Kishnani, PS; Beckemeyer, AA
Published in: Pediatr Endocrinol Rev
September 2014

Pompe disease is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). Prior to 2006, therapy was palliative. Severely affected infants with Pompe succumbed to cardiomyopathy or respiratory failure by one year of age. Enzyme replacement therapy (ERT) with alglucosidase alfa (Genzyme, Cambridge, MA, USA) is currently the only approved treatment for Pompe disease which has improved overall survival, ventilator-free survival, cardiomyopathy, and motor development in infants. In patients with late onset Pompe disease, ERT has resulted in disease course stabilization with motor and pulmonary improvements. Factors impacting outcome include age at start of ERT, muscle fiber type, underlying genotype and a multidisciplinary approach to care. This article highlights the lessons learned from infants and adults treated with ERT, limitations of ERT, and the development of adjunctive and alternative therapies, including immune modulation, upregulation of receptor expression, diet and exercise, second-generation recombinant ERT, chaperone therapy, substrate reduction therapy and gene therapy.

Duke Scholars

Published In

Pediatr Endocrinol Rev

ISSN

1565-4753

Publication Date

September 2014

Volume

12 Suppl 1

Start / End Page

114 / 124

Location

Israel

Related Subject Headings

  • alpha-Glucosidases
  • Molecular Chaperones
  • Immunomodulation
  • Humans
  • Glycogen Storage Disease Type II
  • Genetic Therapy
  • Enzyme Replacement Therapy
  • Endocrinology & Metabolism
  • 3215 Reproductive medicine
  • 3213 Paediatrics
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Kishnani, P. S., & Beckemeyer, A. A. (2014). New therapeutic approaches for Pompe disease: enzyme replacement therapy and beyond. Pediatr Endocrinol Rev, 12 Suppl 1, 114–124.
Kishnani, Priya S., and Alexandra A. Beckemeyer. “New therapeutic approaches for Pompe disease: enzyme replacement therapy and beyond.Pediatr Endocrinol Rev 12 Suppl 1 (September 2014): 114–24.
Kishnani PS, Beckemeyer AA. New therapeutic approaches for Pompe disease: enzyme replacement therapy and beyond. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:114–24.
Kishnani, Priya S., and Alexandra A. Beckemeyer. “New therapeutic approaches for Pompe disease: enzyme replacement therapy and beyond.Pediatr Endocrinol Rev, vol. 12 Suppl 1, Sept. 2014, pp. 114–24.
Kishnani PS, Beckemeyer AA. New therapeutic approaches for Pompe disease: enzyme replacement therapy and beyond. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:114–124.

Published In

Pediatr Endocrinol Rev

ISSN

1565-4753

Publication Date

September 2014

Volume

12 Suppl 1

Start / End Page

114 / 124

Location

Israel

Related Subject Headings

  • alpha-Glucosidases
  • Molecular Chaperones
  • Immunomodulation
  • Humans
  • Glycogen Storage Disease Type II
  • Genetic Therapy
  • Enzyme Replacement Therapy
  • Endocrinology & Metabolism
  • 3215 Reproductive medicine
  • 3213 Paediatrics