How is Pompe disease treated?

Enzyme replacement therapy (ERT) is an approved treatment for all Pompe patients. A drug called alglucosidase alfa is given intravenously (through the patient’s vein). It is a genetically engineered enzyme that acts like the naturally occurring acid alfa glucosidase enzyme.

Specialist teams (heart doctors, respiratory therapists, neurologists, etc.) can treat symptoms and offer supportive care for those with Pompe disease. Ask your doctors about details for each specific case.

What are the complications of Pompe disease?

Without treatment, infants with Pompe disease will die. Many of the people with Pompe disease have respiratory (breathing) problems, heart problems, and almost all are plagued with muscle weakness. Most people will have to use oxygen and wheelchairs at some point.

Last reviewed by a Cleveland Clinic medical professional on 04/02/2019.

References

  • Genetics Home Reference. Pompe disease. Accessed 7/5/2019.
  • National Organization of Rare Disorders. Pompe disease. Accessed 7/5/2019.
  • Baby’s First Test. Pompe. Accessed 7/5/2019.
  • Acid Maltase Deficiency Association. What is AMD? Accessed 7/5/2019.
  • Di Iorio, G., Cipullo, F., Stromillo, L., Soldana, L., Capone, E., & Farina, O. (2011, December 30). S1.3 Adult-onset Pompe disease. Acta Myologica, 200-202

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