Glycogen Storage Disease, Type II (Pompe Disease) Medication

  • Author: Wayne E Anderson, DO; Chief Editor: George T Griffing, MD   more...
 
Updated: May 28, 2010
 

Medication Summary

The goals of pharmacotherapy are to reduce morbidity and prevent complications.

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Enzyme, Replacement Therapy

Class Summary

Recombinant human enzyme alpha-glucosidase has been designated an orphan drug for use in Pompe disease.[9]

Strothotte et al assessed the effects of alglucosidase alfa replacement therapy on various stages of late-onset Pompe disease, using a series of tests on 44 patients with the condition.[10] Replacement therapy was administered for 1 year (20 mg/kg IV q2wk), with tests performed at baseline and then every 3 months. Results from the 6-minute walk and modified Gowers' maneuver tests changed significantly, as did creatine kinase levels. Other test outcomes (eg, from serial arm function tests, timed 10 m walk tests, 4-stair climb tests) remained the same from baseline to endpoint. The patients experienced no serious adverse events. According to the authors, the data imply that the treatment of Pompe disease with alglucosidase alfa replacement can stabilize neuromuscular deficits and produce mild functional improvement in patients.

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Alglucosidase alfa (Lumizyme, Myozyme)

 

Recombinant human enzyme alpha-glucosidase (rhGAA) indicated as an orphan drug for treatment of Pompe disease (GAA deficiency). Replaces rhGAA, which is deficient or lacking in persons with Pompe disease. Alpha-glucosidase is essential for normal muscle development and function. Binds to mannose-6-phosphate receptors and then is transported into lysosomes; undergoes proteolytic cleavage that results in increased enzymatic activity and ability to cleave glycogen. Improves infant survival without requiring invasive ventilatory support compared with historical controls without treatment.

Myozyme indicated for Pompe disease. Improves ventilator-free survival in patients with infantile-onset Pompe disease as compared to an untreated historical control.

Lumizyme indicated for patients 8 y and older with late (noninfantile) onset Pompe disease) who do not have evidence of cardiac hypertrophy.

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Contributor Information and Disclosures
Author

Wayne E Anderson, DO  Assistant Professor of Internal Medicine/Neurology, Western University of Health Sciences; Assistant Professor of Family Medicine, Touro University College of Osteopathic Medicine; Consulting Staff in Pain Management, Department of Neurology, California Pacific Medical Center; Consulting Staff in Neurology, Department of Neurology, California Pacific Medical Center

Wayne E Anderson, DO is a member of the following medical societies: American Academy of Neurology, American Medical Association, American Society of Law, Medicine & Ethics, California Medical Association, and San Francisco Medical Society

Disclosure: Cephalon Honoraria Speaking and teaching; Pfizer Honoraria Speaking and teaching; King Honoraria Speaking and teaching; Forest Honoraria Speaking and teaching

Specialty Editor Board

Barry J Goldstein, MD, PhD  Director, Division of Endocrinology, Diabetes and Metabolic Diseases, Professor, Department of Internal Medicine, Thomas Jefferson University

Barry J Goldstein, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American College of Clinical Endocrinologists, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, and Endocrine Society

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

Kent Wehmeier, MD  Professor, Department of Internal Medicine, Division of Endocrinology, Diabetes, and Metabolism, St Louis University School of Medicine

Kent Wehmeier, MD is a member of the following medical societies: American Society of Hypertension, Endocrine Society, and International Society for Clinical Densitometry

Disclosure: Nothing to disclose.

Mark Cooper, MBBS, PhD, FRACP  Head, Diabetes & Metabolism Division, Baker Heart Research Institute, Professor of Medicine, Monash University

Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD  Professor of Medicine, St Louis University School of Medicine

George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, American College of Medical Practice Executives, American College of Physician Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical Research, Endocrine Society, International Society for Clinical Densitometry, and Southern Society for Clinical Investigation

Disclosure: Nothing to disclose.

References

  1. Lukacs Z, Nieves Cobos P, Mengel E, et al. Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening. J Inherit Metab Dis. Dec 23 2009;[Medline].

  2. Bijvoet AG, Van Hirtum H, Vermey M. Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. J Pathol. Nov 1999;189(3):416-24. [Medline].

  3. Gort L, Coll MJ, Chabás A. Glycogen storage disease type II in Spanish patients: High frequency of c.1076-1G>C mutation. Mol Genet Metab. Sep-Oct 2007;92(1-2):183-7. [Medline].

  4. Martiniuk F, Chen A, Mack A. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet. Aug 27 1998;79(1):69-72. [Medline].

  5. Jones HN, Muller CW, Lin M, et al. Oropharyngeal dysphagia in infants and children with infantile Pompe disease. Dysphagia. Sep 10 2009;[Medline].

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  8. Bijvoet AG, Van Hirtum H, Kroos MA. Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum Mol Genet. Nov 1999;8(12):2145-53. [Medline].

  9. Beck M. Alglucosidase alfa: Long term use in the treatment of patients with Pompe disease. Ther Clin Risk Manag. 2009;5:767-72. [Medline]. [Full Text].

  10. Strothotte S, Strigl-Pill N, Grunert B, et al. Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol. Jan 2010;257(1):91-7. [Medline].

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  17. Hirshhorn R, Reuser A. Glycogen Storage Disease Type II: Acid alpha-Glucosidase (Acid Maltase) Deficiency. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2001:3389-3420.

  18. Melvin JJ. Pompe's disease. Arch Neurol. Jan 2000;57(1):134-5. [Medline].

  19. Orho M, Bosshard NU, Buist NR. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. J Clin Invest. Aug 1 1998;102(3):507-15. [Medline].

  20. Sahin M, du Plessis AJ. Hydrocephalus associated with glycogen storage disease type II (Pompe's disease). Pediatr Neurol. Sep 1999;21(3):674-6. [Medline].

  21. Smit GP, Fernandes J, Leonard JV. The long-term outcome of patients with glycogen storage diseases. J Inherit Metab Dis. 1990;13(4):411-8. [Medline].

  22. Stevens AN, Iles RA, Morris PG. Detection of glycogen in a glycogen storage disease by 13C nuclear magnetic resonance. FEBS Lett. Dec 27 1982;150(2):489-93. [Medline].

  23. Sun B, Zhang H, Franco LM, Brown T, Bird A, Schneider A. Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter. Mol Ther. Jun 2005;11(6):889-98. [Medline].

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Glycogen storage disease, type II. Metabolic pathways of carbohydrates.
 
 
 
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