Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease

Priya Sunil Kishnani, Marc Nicolino, Thomas Voit, R. Curtis Rogers, Anne Chun Hui Tsai, John Waterson, Gail E. Herman, Andreas Amalfitano, Beth L. Thurberg, Susan Richards, Mark Davison, Deyanira Corzo, Y. T. Chen

Research output: Contribution to journalArticlepeer-review

248 Scopus citations


Objective: To conduct an open-label, multinational, multicenter study examining the safety and efficacy of recombinant human acid α-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.

Original languageEnglish (US)
Pages (from-to)89-97
Number of pages9
JournalJournal of Pediatrics
Issue number1
StatePublished - Jul 2006
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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