Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy

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dc.contributor.authorBraunlin, E.
dc.contributor.authorRosenfeld, H.
dc.contributor.authorKampmann, C.
dc.contributor.authorJohnson, J.
dc.contributor.authorBeck, M.
dc.contributor.authorGiugliani, R.
dc.contributor.authorGuffon, N.
dc.contributor.authorKetteridge, D.
dc.contributor.authorMiranda, C.
dc.contributor.authorScarpa, M.
dc.contributor.authorSchwartz, I.
dc.contributor.authorTeles, E.
dc.contributor.authorWraith, J.
dc.contributor.authorBarrios, P.
dc.contributor.authorDias da Silva, E.
dc.contributor.authorKurio, G.
dc.contributor.authorRichardson, M.
dc.contributor.authorGildengorin, G.
dc.contributor.authorHopwood, J.
dc.contributor.authorImperiale, M.
dc.contributor.authoret al.
dc.date.issued2013
dc.description.abstractCharacteristic 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.
dc.description.statementofresponsibilityE. 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
dc.identifier.citationJournal of Inherited Metabolic Disease, 2013; 36(2):385-394
dc.identifier.doi10.1007/s10545-012-9481-2
dc.identifier.issn0141-8955
dc.identifier.issn1573-2665
dc.identifier.urihttp://hdl.handle.net/2440/82291
dc.language.isoen
dc.publisherKluwer Academic Publ
dc.rights© The Author(s) 2012. This article is published with open access at Springerlink.com
dc.source.urihttps://doi.org/10.1007/s10545-012-9481-2
dc.subjectMPS VI Study Group
dc.subjectHeart Valves
dc.subjectHumans
dc.subjectHypertrophy, Left Ventricular
dc.subjectMucopolysaccharidosis VI
dc.subjectN-Acetylgalactosamine-4-Sulfatase
dc.subjectRecombinant Proteins
dc.subjectTreatment Outcome
dc.subjectAdolescent
dc.subjectAdult
dc.subjectChild
dc.subjectFemale
dc.subjectMale
dc.subjectClinical Trials as Topic
dc.subjectRandomized Controlled Trials as Topic
dc.subjectYoung Adult
dc.subjectEnzyme Replacement Therapy
dc.titleEnzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
dc.title.alternativeEnzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme(r)) therapy
dc.typeJournal article
pubs.publication-statusPublished

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