Genetics of Glycogen-Storage Disease Type II (Pompe Disease) Medication

Updated: Nov 17, 2021
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD  more...
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Medication Summary

Recombinant human enzyme alpha-glucosidase (rhGAA) is indicated as an orphan drug for treatment of glycogen-storage disease type II (GSD II; Pompe disease).


Enzyme replacement

Class Summary

Enzyme replacement therapy is approved in the United States and may ameliorate clinical symptoms. Enzyme replacement therapies are available for all age groups (ie, infantile [early onset] or late onset [juvenile/adult]) affected by Pompe disease. 

Replaces rhGAA, which is deficient or lacking in persons with Pompe disease. Alpha-glucosidase is essential for normal muscle development and function. It binds to mannose-6-phosphate receptors and then is transported into lysosomes, then undergoes proteolytic cleavage that results in increased enzymatic activity and ability to cleave glycogen. Infant survival is improved without requiring invasive ventilatory support compared with historical controls without treatment. 

Alglucosidase alfa (Lumizyme, Myozyme)

Myozyme has been shown to improve ventilator-free survival in patients with infantile-onset Pompe disease compared with untreated historical controls. It has not been adequately studied for treatment of other forms of Pompe disease. Lumizyme is indicated for infantile-onset Pompe disease and also for late (non-infantile) Pompe disease. 

Avalglucosidase alfa (Nexviazyme)

Indicated for treatment of patients aged 1 year and older with late-onset Pompe disease.