A higher dose of enzyme therapy in patients with classic infantile Pompe disease seems to improve ventilator-free survival and motor function
نویسندگان
چکیده
Introduction Enzyme replacement therapy (ERT) with Myozyme has significantly improved the prospect for patients with classic infantile Pompe disease. Yet, about 50% of patients still do not survive ventilator-free beyond 2.5 years. In the present study we compared the safety and efficacy of treatment with 40 mg/kg/week to that of 20 mg/kg/ every other week (eow) in 10 infantile patients to determine if a higher/more frequent dose would improve outcomes. All patients were treated for at least one year and received the same dose throughout the study.
منابع مشابه
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.
Deficiency of acid alpha glucosidase (GAA) causes Pompe disease, which is usually fatal if onset occurs in infancy. Patients synthesize a non-functional form of GAA or are unable to form native enzyme. Enzyme replacement therapy with recombinant human GAA (rhGAA) prolongs survival in infantile Pompe patients but may be less effective in cross-reactive immunologic material (CRIM)-negative patien...
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