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Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.

Publication ,  Journal Article
Nicolino, M; Byrne, B; Wraith, JE; Leslie, N; Mandel, H; Freyer, DR; Arnold, GL; Pivnick, EK; Ottinger, CJ; Robinson, PH; Loo, J-CA; Smitka, M ...
Published in: Genet Med
March 2009

PURPOSE: A clinical trial was conducted to evaluate the safety and efficacy of alglucosidase alfa in infants and children with advanced Pompe disease. METHODS: Open-label, multicenter study of IV alglucosidase alfa treatment in 21 infants 3-43 months old (median 13 months) with minimal acid alpha-glucosidase activity and abnormal left ventricular mass index by echocardiography. Patients received IV alglucosidase alfa every 2 weeks for up to 168 weeks (median 120 weeks). Survival results were compared with an untreated reference cohort. RESULTS: At study end, 71% (15/21) of patients were alive and 44% (7/16) of invasive-ventilator free patients remained so. Compared with the untreated reference cohort, alglucosidase alfa reduced the risk of death by 79% (P < 0.001) and the risk of invasive ventilation by 58% (P = 0.02). Left ventricular mass index improved or remained normal in all patients evaluated beyond 12 weeks; 62% (13/21) achieved new motor milestones. Five patients were walking independently at the end of the study and 86% (18/21) gained functional independence skills. Overall, 52% (11/21) of patients experienced infusion-associated reactions; 95% (19/20) developed IgG antibodies to recombinant human lysosomal acid alpha-glucosidase; no patients withdrew from the study because of safety concerns. CONCLUSIONS: In this population of infants with advanced disease, biweekly infusions with alglucosidase alfa prolonged survival and invasive ventilation-free survival. Treatment also improved indices of cardiomyopathy, motor skills, and functional independence.

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Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

March 2009

Volume

11

Issue

3

Start / End Page

210 / 219

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Treatment Outcome
  • Time Factors
  • Skin Diseases
  • Muscle, Skeletal
  • Male
  • Kaplan-Meier Estimate
  • Infant
  • Immunoglobulin G
  • Humans
 

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Nicolino, M., Byrne, B., Wraith, J. E., Leslie, N., Mandel, H., Freyer, D. R., … Kishnani, P. S. (2009). Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med, 11(3), 210–219. https://doi.org/10.1097/GIM.0b013e31819d0996
Nicolino, Marc, Barry Byrne, J Edmund Wraith, Nancy Leslie, Hanna Mandel, David R. Freyer, Georgianne L. Arnold, et al. “Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.Genet Med 11, no. 3 (March 2009): 210–19. https://doi.org/10.1097/GIM.0b013e31819d0996.
Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009 Mar;11(3):210–9.
Nicolino, Marc, et al. “Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.Genet Med, vol. 11, no. 3, Mar. 2009, pp. 210–19. Pubmed, doi:10.1097/GIM.0b013e31819d0996.
Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, Arnold GL, Pivnick EK, Ottinger CJ, Robinson PH, Loo J-CA, Smitka M, Jardine P, Tatò L, Chabrol B, McCandless S, Kimura S, Mehta L, Bali D, Skrinar A, Morgan C, Rangachari L, Corzo D, Kishnani PS. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med. 2009 Mar;11(3):210–219.

Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

March 2009

Volume

11

Issue

3

Start / End Page

210 / 219

Location

United States

Related Subject Headings

  • alpha-Glucosidases
  • Treatment Outcome
  • Time Factors
  • Skin Diseases
  • Muscle, Skeletal
  • Male
  • Kaplan-Meier Estimate
  • Infant
  • Immunoglobulin G
  • Humans