Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI

Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI

Autor Horovitz, Dafne D. G. Google Scholar
Magalhaes, Tatiana S. P. C. Google Scholar
Acosta, Angelina Google Scholar
Ribeiro, Erlane M. Google Scholar
Giuliani, Liane R. Google Scholar
Palhares, Durval B. Google Scholar
Kim, Chong A. Google Scholar
Paula, Ana Carolina de Google Scholar
Kerstenestzy, Marcelo Google Scholar
Pianovski, Mara A. D. Google Scholar
Costa, Maria Ione F. Google Scholar
Santos, Francisca C. Google Scholar
Martins, Ana Maria Autor UNIFESP Google Scholar
Aranda, Carolina Sanchez Autor UNIFESP Google Scholar
Correa Neto, Jordao Google Scholar
Moreira Holanda, Gervina Brady Google Scholar
Cardoso, Laercio Google Scholar
Silva, Carlos A. B. da Google Scholar
Bonatti, Renata C. F. Google Scholar
Ribeiro, Bethania F. R. Google Scholar
Rodrigues, Maria do Carmo S. Google Scholar
Llerena, Juan C. Google Scholar
Instituição 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
Resumo 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.
Assunto Mucopolysaccharidosis VI
Lysosomal storage disorder
Enzyme replacement therapy
Idioma Inglês
Financiador BioMarin Pharmaceutical Inc.
Data 2013-05-01
Publicado em Molecular Genetics and Metabolism. San Diego: Academic Press Inc Elsevier Science, v. 109, n. 1, p. 62-69, 2013.
ISSN 1096-7192 (Sherpa/Romeo, fator de impacto)
Editor Elsevier B.V.
Extensão 62-69
Fonte http://dx.doi.org/10.1016/j.ymgme.2013.02.014
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000318055100011
URI http://repositorio.unifesp.br/handle/11600/36234

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