The Journal of Pediatrics
Volume 152, Issue 4 , Pages 563-570.e1 , April 2008

Safety and Efficacy of Enzyme Replacement Therapy with Agalsidase Beta: An International, Open-label Study in Pediatric Patients with Fabry Disease

  • J. Edmond Wraith, MB, ChB

      Affiliations

    • Royal Manchester Children’s Hospital, Manchester, United Kingdom
    • J. Edmond Wraith and Anna Tylki-Szymanska were equal contributors to this article.
    • ,
  • Anna Tylki-Szymanska, MD, PhD

      Affiliations

    • The Children’s Memorial Health Institute, Warsaw, Poland
    • Corresponding Author InformationReprint requests: A.Tylki-Szymanska, The Children’s Memorial Health Institute, Warsaw, Poland.
    • J. Edmond Wraith and Anna Tylki-Szymanska were equal contributors to this article.
    • ,
  • Nathalie Guffon, MD, PhD

      Affiliations

    • Hôpital Edouard Herriot, Lyon, France
    • ,
  • Y. Howard Lien, MD, PhD

      Affiliations

    • University of Arizona, Tucson, Arizona
    • ,
  • Michel Tsimaratos, MD, PhD

      Affiliations

    • Assistance Publique-Hôpitaux de Marseille la Timone-Enfants, Marseille, France
    • ,
  • Ashok Vellodi, MBBS

      Affiliations

    • Great Ormond Street Hospital for Children, London, United Kingdom
    • ,
  • Dominique P. Germain, MD, PhD

      Affiliations

    • University of Versailles-St Quentin en Yvelines and Centre de référence de la maladie de Fabry et des maladies héréditaires du tissu conjonctif, Assistance Publique-Hôpitaux de Paris, Paris, France

Received 28 December 2006 ,Revised 19 July 2007 ,Accepted 5 September 2007.

References 

  1. Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In:  Scriver CR,  Beaudet A,  Sly W,  Valle D,  Childs R,  Kinzler K editor. Metabolic and molecular bases of inherited disease. 8 ed.. New York: McGraw Hill; 2001;p. 3733–3774
  2. Gupta S, Ries M, Kotsopoulos S, Schiffmann R. The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women. Medicine. 2005;84:261–268
  3. Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, Kim L, et al. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet. 2001;68:711–722
  4. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, et al. Safety and efficacy of recombinant human alpha-galactosidase A—replacement therapy in Fabry’s disease. N Engl J Med. 2001;345:9–16
  5. Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet. 2004;75:65–74
  6. Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol. 2007;18:1547–1557
  7. Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, et al. Agalsidase beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med. 2007;146:77–86
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  9. Ramaswami U, Wendt S, Pintos-Morell G, Parini R, Whybra C, Leon Leal JA, et al. Enzyme replacement therapy with agalsidase alfa in children with Fabry disease. Acta Paediatr. 2007;96:122–127
  10. Ries M, Ramaswami U, Parini R, Lindblad B, Whybra C, Willers I, et al. The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr. 2003;162:767–772
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  13. Thurberg BL, Byers HR, Granter SR, Phelps RG, Gordon RE, O’Callaghan M. Monitoring the 3-year efficacy of enzyme replacement therapy in Fabry disease by repeated skin biopsies. J Invest Dermatol. 2004;122:900–908
  14. Roddy TP, Nelson BC, Sung CC, Araghi S, Wilkens D, Zhang XK, et al. Liquid chromatography-tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of Fabry patients treated with enzyme replacement therapy. Clin Chem. 2005;51:237–240
  15. Schwartz GJ, Brion LP, Spitzer A. The use of plasma creatinine concentration for estimating glomerular filtration rate in infants, children, and adolescents. Pediatr Clin North Am. 1987;34:571–590
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  22. O’Brien BD, Shnitka TK, McDougall R, Walker K, Costopoulos L, Lentle B, et al. Pathophysiologic and ultrastructural basis for intestinal symptoms in Fabry’s disease. Gastroenterology. 1982;82(5 Pt 1):957–962
  23. Banikazemi M, Ullman T, Desnick RJ. Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy. Mol Genet Metab. 2005;85:255–259
  24. Guffon N, Fouilhoux A. Clinical benefit in Fabry patients given enzyme replacement therapy—a case series. J Inherit Metab Dis. 2004;27:221–227
  25. Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis. 2007;30:184–192

 Sponsored by Genzyme Corporation.

 This trial has been registered at clinicaltrials.gov. The study ID# is NCT00074958.

 Conflict-of-Interest Disclosures: Dr Wraith has received honoraria and consulting fees from Genzyme; Dr Tylki-Szymanska has received honoraria and consulting fees from Genzyme; Dr Guffon received a research grant from Genzyme; Dr Lien has received research grants from Genzyme and Shire; Dr Tsimaratos has received honoraria from Genzyme and Shire; Dr Vellodi has received honoraria from Genzyme; and Dr Germain has receieved a research grant and consulting fees from Genzyme.

PII: S0022-3476(07)00852-9

doi: 10.1016/j.jpeds.2007.09.007

The Journal of Pediatrics
Volume 152, Issue 4 , Pages 563-570.e1 , April 2008

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