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Use este identificador para citar ou linkar para este item: https://repositorio.ufba.br/handle/ri/13434
Tipo: Artigo de Periódico
Título: Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI
Título(s) alternativo(s): Molecular Genetics and Metabolism
Autor(es): Horovitz, Dafne Dain Gandelman
Magalhães, Tatiana S. P. C.
Acosta, Angelina Xavier
Ribeiro, Erlane Marques
Giuliani, Liane de Rosso
Palhares, Durval Batista
Kim, Chong Ae
Paula, Ana Carolina de
Kerstenestzy, Marcelo
Pianovski, Mara Albonei Dudeque
Costa, Maria Ione Ferreira
Santos, Francisca C.
Martins, Ana Maria
Aranda, Carolina Sanchez
Correa Neto, Jordão
Holanda, Gervina Brady Moreira
Cardoso Junior, Laércio
Silva, Carlos A. B. da
Bonatti, Renata Cristina Franzon
Ribeiro, Bethânia de Freitas Rodrigues
Rodrigues, Maria do Carmo S.
Llerena Junior, Juan Clinton
Autor(es): Horovitz, Dafne Dain Gandelman
Magalhães, Tatiana S. P. C.
Acosta, Angelina Xavier
Ribeiro, Erlane Marques
Giuliani, Liane de Rosso
Palhares, Durval Batista
Kim, Chong Ae
Paula, Ana Carolina de
Kerstenestzy, Marcelo
Pianovski, Mara Albonei Dudeque
Costa, Maria Ione Ferreira
Santos, Francisca C.
Martins, Ana Maria
Aranda, Carolina Sanchez
Correa Neto, Jordão
Holanda, Gervina Brady Moreira
Cardoso Junior, Laércio
Silva, Carlos A. B. da
Bonatti, Renata Cristina Franzon
Ribeiro, Bethânia de Freitas Rodrigues
Rodrigues, Maria do Carmo S.
Llerena Junior, Juan Clinton
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®, 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.
Palavras-chave: Mucopolysaccharidosis VI
MPS VI
Lysosomal storage disorder
Galsulfase
Enzyme replacement therapy
Pediatric
Editora / Evento / Instituição: Molecular Genetics and Metabolism
Tipo de Acesso: Acesso Aberto
URI: http://repositorio.ufba.br/ri/handle/ri/13434
Data do documento: 2013
Aparece nas coleções:Artigo Publicado em Periódico (Faculdade de Medicina)

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