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Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.

Publication ,  Journal Article
Kishnani, PS; Corzo, D; Nicolino, M; Byrne, B; Mandel, H; Hwu, WL; Leslie, N; Levine, J; Spencer, C; McDonald, M; Li, J; Dumontier, J ...
Published in: Neurology
January 9, 2007

BACKGROUND: Pompe disease is a progressive metabolic neuromuscular disorder resulting from deficiency of lysosomal acid alpha-glucosidase (GAA). Infantile-onset Pompe disease is characterized by cardiomyopathy, respiratory and skeletal muscle weakness, and early death. The safety and efficacy of recombinant human (rh) GAA were evaluated in 18 patients with rapidly progressing infantile-onset Pompe disease. METHODS: Patients were diagnosed at 6 months of age and younger and exhibited severe GAA deficiency and cardiomyopathy. Patients received IV infusions of rhGAA at 20 mg/kg (n = 9) or 40 mg/kg (n = 9) every other week. Analyses were performed 52 weeks after the last patient was randomized to treatment. RESULTS: All patients (100%) survived to 18 months of age. A Cox proportional hazards analysis demonstrated that treatment reduced the risk of death by 99%, reduced the risk of death or invasive ventilation by 92%, and reduced the risk of death or any type of ventilation by 88%, as compared to an untreated historical control group. There was no clear advantage of the 40-mg/kg dose with regard to efficacy. Eleven of the 18 patients experienced 164 infusion-associated reactions; all were mild or moderate in intensity. CONCLUSIONS: Recombinant human acid alpha-glucosidase is safe and effective for treatment of infantile-onset Pompe disease. Eleven patients experienced adverse events related to treatment, but none discontinued. The young age at which these patients initiated therapy may have contributed to their improved response compared to previous trials with recombinant human acid alpha-glucosidase in which patients were older.

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Published In

Neurology

DOI

EISSN

1526-632X

Publication Date

January 9, 2007

Volume

68

Issue

2

Start / End Page

99 / 109

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • United States
  • Treatment Outcome
  • Terminal Care
  • Taiwan
  • Survival Rate
  • Survival Analysis
  • Risk Assessment
  • Palliative Care
  • Neurology & Neurosurgery
 

Citation

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Kishnani, P. S., Corzo, D., Nicolino, M., Byrne, B., Mandel, H., Hwu, W. L., … Wraith, J. E. (2007). Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology, 68(2), 99–109. https://doi.org/10.1212/01.wnl.0000251268.41188.04
Kishnani, P. S., D. Corzo, M. Nicolino, B. Byrne, H. Mandel, W. L. Hwu, N. Leslie, et al. “Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.Neurology 68, no. 2 (January 9, 2007): 99–109. https://doi.org/10.1212/01.wnl.0000251268.41188.04.
Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007 Jan 9;68(2):99–109.
Kishnani, P. S., et al. “Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.Neurology, vol. 68, no. 2, Jan. 2007, pp. 99–109. Pubmed, doi:10.1212/01.wnl.0000251268.41188.04.
Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, Leslie N, Levine J, Spencer C, McDonald M, Li J, Dumontier J, Halberthal M, Chien YH, Hopkin R, Vijayaraghavan S, Gruskin D, Bartholomew D, van der Ploeg A, Clancy JP, Parini R, Morin G, Beck M, De la Gastine GS, Jokic M, Thurberg B, Richards S, Bali D, Davison M, Worden MA, Chen YT, Wraith JE. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007 Jan 9;68(2):99–109.

Published In

Neurology

DOI

EISSN

1526-632X

Publication Date

January 9, 2007

Volume

68

Issue

2

Start / End Page

99 / 109

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • United States
  • Treatment Outcome
  • Terminal Care
  • Taiwan
  • Survival Rate
  • Survival Analysis
  • Risk Assessment
  • Palliative Care
  • Neurology & Neurosurgery