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Glycogen storage disease type 2
Other Names for this Disease
- Acid maltase deficiency disease
- Aglucosidase alfa
- Alpha-1,4-glucosidase deficiency
- Cardiomegalia glycogenica diffusa
- Deficiency of alpha-glucosidase
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Individuals with glycogen storage disease type 2 are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory therapist) knowledgeable about the disease, who can offer supportive and symptomatic care. The discovery of the GAA gene has led to rapid progress in understanding the biological mechanisms and properties of the GAA enzyme. As a result, an enzyme replacement therapy has been developed that has shown, in clinical trials with infantile-onset patients, to decrease heart size, maintain normal heart function, improve muscle function, tone, and strength, and reduce glycogen accumulation. In 2006, a drug called alglucosidase alfa (Myozyme©) received FDA approval for the treatment of glycogen storage disease type 2. Myozyme is a form of GAA—the enzyme that is absent or reduced in this condition. The drug is usually administered via intravenous infusion every other week. Myozyme has been remarkably successful in reversing cardiac muscle damage and in improving life expectancy in those with the infantile form of the disease.  To find out more information on Myozyme, please visit the following link: http://www.myozyme.com/
Last updated: 2/24/2014
- Pompe Disease. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pompe%20Disease. Accessed 12/24/2008.
- NINDS Pompe Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). July 25, 2007; http://www.ninds.nih.gov/disorders/pompe/pompe.htm. Accessed 12/24/2008.
- FDA Approves First Treatment of Pompe Disease. U.S. Food and Drug Administration (FDA). April 28, 2006; http://www.fda.gov/bbs/topics/NEWS/2006/NEW01365.html. Accessed 12/24/2008.
- The American College of Medical Genetics (ACMG) provides education, resources, and a voice for the medical genetics profession. To make genetic services available to and improve the health of the public, the ACMG promotes the development and implementation of methods to diagnose, treat and prevent genetic diseases. In an effort to fulfill its mission, the ACMG performs many tasks, including developing clinical practice guidelines. In May 2006, the ACMG Work Group on Management of Pompe Disease released a ACMG Practice Guideline titled "Pompe disease diagnosis and management guideline." To view this practice guideline, visit the link above.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
Clinical Trials & Research for this Disease
- ClinicalTrials.gov lists trials that are studying or have studied Glycogen storage disease type 2. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
Medical ProductsThe medication(s) listed in the table(s) below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table(s) below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search for all FDA approved drugs, visit Drugs@FDA. You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.
|Generic Name||Recombinant human acid alpha-glucosidase|
The FDA has approved this product to be used in this manner.
|For use in patients with Pompe disease (GAA deficiency). Alglucosidase alfa has been shown to improve ventilator-free survival in patients with infantile onset Pompe disease as compared to an untreated historical control, whereas use of Alphaglucosidase|
|More Information about this product||Drug Information Portal|