Pompe disease


Is there a treatment for Pompe disease?

In the United States and other countries, there is an approved treatment for Pompe disease with a drug called alglucosidase alfa (Trade Name: Lumizyme). Lumizyme is an enzyme replacement therapy (ERT) which is a man-made enzyme that is infused into the vein of a person with Pompe disease every two weeks. The man-made enzyme can break down built up glycogen in the muscles. Lumizyme is better at clearing out glycogen storage in the heart muscles compared with the skeletal muscles (muscles which help the body move). It is important to start ERT as soon as possible when someone is diagnosed with Pompe disease, because muscle that is too damaged by glycogen may not be able to be helped. ERT therapy must be given every two weeks for the rest of the person's life. It is very expensive, but health insurance usually most of the cost of the medicine. If you want to consider starting ERT, it would be best to go to a doctor experienced with prescribing ERTs for lysosomal storage diseases so that you can talk about the pros and cons of beginning ERT. There are other treatments for Pompe disease that are being studied in clinical trials (e.g., gene therapy, combination therapy).

Kishnani, P. S., Corzo, D., M., N., Byrne, B., Mandel, H., Hwu, W. L., . . . Wraith, J. E. (2007). Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology, 68(2), 99-109.

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