Abstract
In a previous 52-wk trial, treatment with alglucosidase alfa markedly improved cardiomyopathy, ventilatory function, and overall survival among 18 children <7 mo old with infantile-onset Pompe disease. Sixteen of the 18 patients enrolled in an extension study, where they continued to receive alglucosidase alfa at either 20 mg/kg biweekly (n = 8) or 40 mg/kg biweekly (n = 8), for up to a total of 3 y. These children continued to exhibit the benefits of alglucosidase alfa at the age of 36 mo. Cox regression analyses showed that over the entire study period, alglucosidase alfa treatment reduced the risk of death by 95%, reduced the risk of invasive ventilation or death by 91%, and reduced the risk of any type of ventilation or death by 87%, compared with an untreated historical control group. Cardiomyopathy continued to improve and 11 patients learned and sustained substantial motor skills. No significant differences in either safety or efficacy parameters were observed between the 20 and 40 mg/kg biweekly doses. Overall, long-term alglucosidase alfa treatment markedly extended survival as well as ventilation-free survival and improved cardiomyopathy.
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Abbreviations
- AIMS:
-
Alberta Infant Motor Scale
- CRIM:
-
cross-reacting immunologic material
- GAA:
-
acid α-glucosidase
- IAR:
-
infusion-associated reactions
- LVM:
-
left ventricular mass
- rhGAA:
-
recombinant human acid α-glucosidase
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Acknowledgements
We thank our colleagues Dr. Dennis Bartholomew, Dr. Barry Byrne, Dr. Geoffroy de La Gastine, Dr. Wuh-Ling Hwu, Dr. Marc Nicolino, Dr. Carolyn Spencer, and Dr. J. Edmond Wraith, who treated patients during the initial 52-week study. We also thank the study coordinators, our colleagues at Genzyme Corporation and the GCRC staff at Duke University. The authors are especially grateful to the patients who participated in this clinical study and their families.
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Supported by the Genzyme Corporation and the Duke Clinical Research Unit Program, National Center for Research Resources, National Institutes of Health (grant number RR024128).Daniel Gruskin is currently at Department of Medical Affairs, Genzyme Corporation, Cambridge, MA 02142.Deya Corzo is currently at Millennium: The Takeda Oncology Company, Cambridge, MA 02139.
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Kishnani, P., Corzo, D., Leslie, N. et al. Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease. Pediatr Res 66, 329–335 (2009). https://doi.org/10.1203/PDR.0b013e3181b24e94
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DOI: https://doi.org/10.1203/PDR.0b013e3181b24e94
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