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Type: Journal article
Title: Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
Other Titles: Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme(r)) therapy
Author: Braunlin, E.
Rosenfeld, H.
Kampmann, C.
Johnson, J.
Beck, M.
Giugliani, R.
Guffon, N.
Ketteridge, D.
Miranda, C.
Scarpa, M.
Schwartz, I.
Teles, E.
Wraith, J.
Barrios, P.
Dias da Silva, E.
Kurio, G.
Richardson, M.
Gildengorin, G.
Hopwood, J.
Imperiale, M.
et al.
Citation: Journal of Inherited Metabolic Disease, 2013; 36(2):385-394
Publisher: Kluwer Academic Publ
Issue Date: 2013
ISSN: 0141-8955
Statement of
E. Braunlin, H. Rosenfeld, C. Kampmann, J. Johnson, M. Beck, R. Giugliani, N. Guffon, D. Ketteridge, C. M. Sá Miranda, M. Scarpa, I. V. Schwartz, E. Leão Teles, J. E. Wraith, P. Barrios, E. Dias da Silva, G. Kurio, M. Richardson, G. Gildengorin, J. J. Hopwood, M. Imperiale, A. Schatz, C. Decker, P. Harmatz, MPS VI Study Group
Abstract: Characteristic cardiac valve abnormalities and left ventricular hypertrophy are present in untreated patients with mucopolysaccharidosis type VI (MPS VI). Cardiac ultrasound was performed to investigate these findings in subjects during long-term enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB, rhN-acetylgalactosamine 4-sulfatase, galsulfase, Naglazyme®). Studies were conducted in 54 subjects before ERT was begun and at specific intervals for up to 96 weeks of weekly infusions of rhASB at 1 mg/kg during phase 1/2, phase 2, and phase 3 trials of rhASB. At baseline, mitral and aortic valve obstruction was present and was significantly greater in those ≥12 years of age. Mild mitral and trace aortic regurgitation were present, the former being significantly greater in those <12 years. Left ventricular hypertrophy, with averaged z-scores ranging from 1.6–1.9 SD greater than normal, was present for ages both <12 and ≥12 years. After 96 weeks of ERT, ventricular septal hypertrophy regressed in those <12 years. For those ≥12 years, septal hypertrophy was unchanged, and aortic regurgitation increased statistically but not physiologically. Obstructive gradients across mitral and aortic valves remained unchanged. The results suggest that long-term ERT is effective in reducing intraventricular septal hypertrophy and preventing progression of cardiac valve abnormalities when administered to those <12 years of age.
Keywords: MPS VI Study Group; Heart Valves; Humans; Hypertrophy, Left Ventricular; Mucopolysaccharidosis VI; N-Acetylgalactosamine-4-Sulfatase; Recombinant Proteins; Treatment Outcome; Adolescent; Adult; Child; Female; Male; Clinical Trials as Topic; Randomized Controlled Trials as Topic; Young Adult; Enzyme Replacement Therapy
Rights: © The Author(s) 2012. This article is published with open access at
RMID: 0020135409
DOI: 10.1007/s10545-012-9481-2
Appears in Collections:Paediatrics publications

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