Please use this identifier to cite or link to this item: https://repositorio.unifesp.br/handle/11600/36234
Title: Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI
Authors: Horovitz, Dafne D. G.
Magalhaes, Tatiana S. P. C.
Acosta, Angelina
Ribeiro, Erlane M.
Giuliani, Liane R.
Palhares, Durval B.
Kim, Chong A.
Paula, Ana Carolina de
Kerstenestzy, Marcelo
Pianovski, Mara A. D.
Costa, Maria Ione F.
Santos, Francisca C.
Martins, Ana Maria [UNIFESP]
Aranda, Carolina Sanchez [UNIFESP]
Correa Neto, Jordao
Moreira Holanda, Gervina Brady
Cardoso, Laercio
Silva, Carlos A. B. da
Bonatti, Renata C. F.
Ribeiro, Bethania F. R.
Rodrigues, Maria do Carmo S.
Llerena, Juan C.
Fiocruz MS
Universidade Federal da Bahia (UFBA)
Hosp Albert Sabin
Universidade Federal de Mato Grosso do Sul (UFMS)
Universidade de São Paulo (USP)
Hosp Barao de Lucena
Univ Fed Parana
Ctr Reabilitacao Infantil
Hosp Univ Maranhao
Universidade Federal de São Paulo (UNIFESP)
Univ Fed Rio Grande do Norte
Univ Fortaleza
Univ Fed Triangulo Mineiro
Hosp Clin Acre
Univ Fed Espirito Santo
Keywords: Mucopolysaccharidosis VI
MPS VI
Lysosomal storage disorder
Galsulfase
Enzyme replacement therapy
Pediatric
Issue Date: 1-May-2013
Publisher: Elsevier B.V.
Citation: Molecular Genetics and Metabolism. San Diego: Academic Press Inc Elsevier Science, v. 109, n. 1, p. 62-69, 2013.
Abstract: Background: Mucopolysaccharidosis type VI (MPS VI) is a progressive, chronic and multisystem lysosomal storage disease with a wide disease spectrum. Clinical and biochemical improvements have been reported for MPS VI patients on enzyme replacement therapy (ERT) with rhASB (recombinant human arylsulfatase B; galsulfase, Naglazyme (R), BioMarin Pharmaceutical Inc.), making early diagnosis and intervention imperative for optimal patient outcomes. Few studies have included children younger than five years of age. This report describes 34 MPS VI patients that started treatment with galsulfase before five years of age.Methods: Data from patients who initiated treatment at <5 years of age were collected from patients' medical records. Baseline and follow-up assessments of common symptoms that led to diagnosis and that were used to evaluate disease progression and treatment efficacy were evaluated.Results: A significant negative correlation was seen with treatment with ERT and urinary GAG levels. of those with baseline and follow-up growth data, 47% remained on their pre-treatment growth curve or moved to a higher percentile after treatment. of the 9 patients with baseline and follow-up sleep studies, 5 remained unaffected and 1 patient initially with mild sleep apnea showed improvement. Data regarding cardiac, ophthalmic, central nervous system, hearing, surgical interventions and development are also reported. No patient discontinued treatment due to an adverse event and all that were treatment-emergent resolved.Conclusions: the prescribed dosage of 1 mg/kg IV weekly with galsulfase ERT is shown to be safe and effective in slowing and/or improving certain aspects of the disease, although patients should be closely monitored for complications associated with the natural history of the disease, especially cardiac valve involvement and spinal cord compression. A long-term follow-up investigation of this group of children will provide further information on the benefits of early treatment as well as disease progression and treatment efficacy and safety in this young patient population. (C) 2013 Elsevier Inc. All rights reserved.
URI: http://repositorio.unifesp.br/handle/11600/36234
ISSN: 1096-7192
Other Identifiers: http://dx.doi.org/10.1016/j.ymgme.2013.02.014
Appears in Collections:Em verificação - Geral

Files in This Item:
File Description SizeFormat 
WOS000318055100011.pdf673.23 kBAdobe PDFView/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.