Pompe disease


What are the pros and cons of enzyme replacement therapy in Late onset Pompe disease?

There are several things to consider when thinking about going on enzyme replacement therapy (ERT) for late onset Pompe disease (LOPD). Currently, there is only one FDA approved medication for Pompe disease: alglucosidase alfa (Lumizyme®) made by Sanofi Genzyme. Lumizyme has been shown to be effective at reducing glycogen stores in the heart muscles (cardiac muscle) but works less well in the skeletal muscle because skeletal muscles do not have as many receptors to take up the enzyme. (Think of it like buckets needed to take water from a river to bring it in the house. Without the buckets, you can't get the water from the river to the house. Cardiac muscle has lots of buckets, while skeletal muscle has less). Still, it slows progression of the disease even in the skeletal muscle so that people with LOPD can use their muscles longer.

ERT is very expensive, but health insurance usually covers most of the cost of ERT. Many times, the remaining cost of ERT can be covered by co-pay assistance programs. The ERT infusions take several hours and must be done every 2 weeks for the rest of your life. It is important to discuss the benefits and limitations of ERT with a physician knowledgeable about Pompe disease and ERT.

Gungor D, Kruijshaar ME, Plug I, Rizopoulos D, Kanters TA, Wens SC, Reuser AJ, van Doorn PA, van der Ploeg AT. Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up. J Inherit Metab Dis. 2015 Nov 3.

Toscano A, Schoser B. Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol. 2013 Apr;260(4):951-9.

Information about ERT: www.pompe.com

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