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Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.
J Pediatr 2006; 149(1):89-97JPed

Abstract

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.

Authors+Show Affiliations

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA. kishn001@mc.duke.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Clinical Trial, Phase II
Journal Article
Multicenter Study
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16860134

Citation

Kishnani, Priya Sunil, et al. "Chinese Hamster Ovary Cell-derived Recombinant Human Acid Alpha-glucosidase in Infantile-onset Pompe Disease." The Journal of Pediatrics, vol. 149, no. 1, 2006, pp. 89-97.
Kishnani PS, Nicolino M, Voit T, et al. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr. 2006;149(1):89-97.
Kishnani, P. S., Nicolino, M., Voit, T., Rogers, R. C., Tsai, A. C., Waterson, J., ... Chen, Y. T. (2006). Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. The Journal of Pediatrics, 149(1), pp. 89-97.
Kishnani PS, et al. Chinese Hamster Ovary Cell-derived Recombinant Human Acid Alpha-glucosidase in Infantile-onset Pompe Disease. J Pediatr. 2006;149(1):89-97. PubMed PMID: 16860134.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. AU - Kishnani,Priya Sunil, AU - Nicolino,Marc, AU - Voit,Thomas, AU - Rogers,R Curtis, AU - Tsai,Anne Chun-Hui, AU - Waterson,John, AU - Herman,Gail E, AU - Amalfitano,Andreas, AU - Thurberg,Beth L, AU - Richards,Susan, AU - Davison,Mark, AU - Corzo,Deyanira, AU - Chen,Y T, PY - 2005/07/25/received PY - 2006/01/13/revised PY - 2006/02/22/accepted PY - 2006/7/25/pubmed PY - 2006/9/1/medline PY - 2006/7/25/entrez SP - 89 EP - 97 JF - The Journal of pediatrics JO - J. Pediatr. VL - 149 IS - 1 N2 - 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. SN - 0022-3476 UR - https://www.unboundmedicine.com/medline/citation/16860134/Chinese_hamster_ovary_cell_derived_recombinant_human_acid_alpha_glucosidase_in_infantile_onset_Pompe_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0022-3476(06)00140-5 DB - PRIME DP - Unbound Medicine ER -