Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.
Published
Journal Article
OBJECTIVE: To conduct an open-label, multinational, multicenter study examining the safety and efficacy of recombinant human acid alpha-glucosidase (rhGAA) in treatment of infantile-onset Pompe disease. STUDY DESIGN: We enrolled 8 infant patients who had Pompe disease with GAA activity <1% of normal, cardiomyopathy, and hypotonia. In the 52-week initial phase, rhGAA was infused intravenously at 10 mg/kg weekly; an extension phase continued survivors' treatment with 10 to 20 mg/kg of rhGAA weekly or 20 mg/kg every 2 weeks for as long as 153 weeks. Safety measurements included adverse events, laboratory tests, and anti-rhGAA antibody titers. Efficacy evaluations included survival, ventilator use, echocardiograms, growth, and motor and cognitive function. RESULT: After 52 weeks of treatment, 6 of 8 patients were alive, and 5 patients were free of invasive ventilator support. Clinical improvements included ameliorated cardiomyopathy and improved growth and cognition. Five patients acquired new motor milestones; 3 patients walked independently. Four patients died after the initial study phase; the median age at death or treatment withdrawal for all patients was 21.7 months, significantly later than expected for patients who were not treated. Treatment was safe and well tolerated; no death was drug-related. CONCLUSION: rhGAA improved ventilator-free survival, cardiomyopathy, growth, and motor function in patients with infantile-onset Pompe disease compared with outcomes expected for patients without treatment.
Full Text
Duke Authors
Cited Authors
- Kishnani, PS; Nicolino, M; Voit, T; Rogers, RC; Tsai, AC-H; Waterson, J; Herman, GE; Amalfitano, A; Thurberg, BL; Richards, S; Davison, M; Corzo, D; Chen, YT
Published Date
- July 2006
Published In
Volume / Issue
- 149 / 1
Start / End Page
- 89 - 97
PubMed ID
- 16860134
Pubmed Central ID
- 16860134
International Standard Serial Number (ISSN)
- 0022-3476
Digital Object Identifier (DOI)
- 10.1016/j.jpeds.2006.02.035
Language
- eng
Conference Location
- United States