Overview of Pompe Disease
Treating Pompe
Current ResearchDisease Management Options
Pompe disease leads to progressive muscular degeneration and premature death. Historically, there has been no treatment available for Pompe disease, and treatment was limited to supportive care.
Drugs that enhance breakdown of glycogen in the cytoplasm, such as epinephrine and glucagon, have no therapeutic effect in Pompe disease. Therapies that alter the synthesis of glycogen, such as high protein diets and alanine, have had transient clinical benefits in a few patients, but do not reduce the glycogen accumulation.
In 2006, the FDA and EMEA approved enzyme replacement therapy (ERT) as an option for treating Pompe disease. Enzyme replacement therapy is intended to replace the missing or deficient enzyme via intravenous infusions.
For more information on ERT, please visit Genzyme.com>>.
Standards of Care
Standards of Care for Pompe disease have been developed the United States and are under development for Europe.
Supportive Therapies
Most patients receive supportive therapies to manage their symptoms and ease the burden of living with Pompe disease. These include:
