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

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 arylsulf...

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Detalles Bibliográficos
Autores: 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.
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2013
País:Brasil
Institución:Universidade Federal de São Paulo (UNIFESP)
Repositorio:Repositório Institucional da UNIFESP
Idioma:inglés
OAI Identifier:oai:repositorio.unifesp.br:11600/36234
Acceso en línea:http://dx.doi.org/10.1016/j.ymgme.2013.02.014
http://repositorio.unifesp.br/handle/11600/36234
Access Level:acceso abierto
Palabra clave:Mucopolysaccharidosis VI
MPS VI
Lysosomal storage disorder
Galsulfase
Enzyme replacement therapy
Pediatric
Descripción
Sumario: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.

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