| Author | Horovitz, Dafne Dain Gandelman | |
| Author | Magalhães, Tatiana de Sá Carneiro Pacheco de | |
| Author | Acosta, Angelina Xavier | |
| Author | Ribeiro, Erlane M. | |
| Author | Giuliani, Liane R. | |
| Author | Palhares, Durval B. | |
| Author | Kim, Chong A. | |
| Author | Paula, Ana Carolina de | |
| Author | Kerstenetzy, Marcelo | |
| Author | Pianovski, Mara A. D. | |
| Author | Costa, Maria Ione F. | |
| Author | Santos, Francisca C. | |
| Author | Martins, Ana Maria | |
| Author | Aranda, Carolina S. | |
| Author | Neto, Jordão Correa | |
| Author | Holanda, Gervina Brady Moreira | |
| Author | Cardoso Junior, Laércio | |
| Author | Silva, Carlos A. B. da | |
| Author | Bonatti, Renata C. F. | |
| Author | Ribeiro, Bethania F. R. | |
| Author | Rodrigues, Maria do Carmo S. | |
| Author | Llerena Junior, Juan Clinton | |
| Access date | 2013-04-16T16:39:38Z | |
| Available date | 2013-04-16T16:39:38Z | |
| Document date | 2013 | |
| Citation | HOROVITZ, Dafne D. G. et al. Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI. Mol. genet. metab., Orlando, v. 109, n. 1, p. 62-69, march. 2013. | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/6450 | |
| Language | eng | pt_BR |
| Publisher | Academic Press | pt_BR |
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| Rights | restricted access | |
| Title | Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI | pt_BR |
| Type | Article | |
| DOI | 10.1016/j.ymgme.2013.02.014 | |
| Abstract | Background: Mucopolysaccharidosis type VI (MPS VI) is a progressive, chronic and multisystem lysosomal
storage disease with awide 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 b5 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 treatmentemergent
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. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e da Adolescência. Rio de Janeiro, RJ, Brasil | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e da Adolescência. Rio de Janeiro, RJ, Brasil | pt_BR |
| Affilliation | Universidade Federal da Bahia. Serviço de Genética Médica. Salvador, BA, Brasil | pt_BR |
| Affilliation | Hospital Albert Sabin. Fortaleza, CE, Brasil | pt_BR |
| Affilliation | Universidade do Mato Grosso do Sul. Faculdade de Medicina. Campo Grande, MS, Brasil | pt_BR |
| Affilliation | Universidade do Mato Grosso do Sul. Faculdade de Medicina. Campo Grande, MS, Brasil | pt_BR |
| Affilliation | Universidade de São Paulo. Instituto da Criança. São Paulo, SP, Brasil | pt_BR |
| Affilliation | Universidade de São Paulo. Instituto da Criança. São Paulo, SP, Brasil | pt_BR |
| Affilliation | Hospital Barão de Lucena. Recife, PE, Brasil | pt_BR |
| Affilliation | Universidade Federal do Paraná. Hospital das Clinicas. Curitiba, PR, Brasil | pt_BR |
| Affilliation | Centro de Reabilitação Infantil. Natal, RN, Brasil | pt_BR |
| Affilliation | Hospital Universitário do Maranhão. São Luís, MA, Brasil | pt_BR |
| Affilliation | Univerisidade Federal de São Paulo. Centro de Referência em Erros Inatos do Metabolismo. São Paulo, SP, Brasil | pt_BR |
| Affilliation | Pontifícia Universidade Católica de Campinas. Hospital e Maternidade Celso Pierro. Enzyme Replacement Therapy Service at Hospital. Campinas, SP, Brasil | pt_BR |
| Affilliation | Universidade Federal do Rio Grande do Norte. Hospital de Pediatria Prof. Heriberto Ferreira Bezerra | pt_BR |
| Affilliation | Universidade de Fortaleza. Fortaleza, CE, Brasil | pt_BR |
| Affilliation | Universidade Federal do Rio Grande do Norte. Natal, RN, Brasil | pt_BR |
| Affilliation | Universidade Federal do Triângulo Mineiro. MG, Brasil | pt_BR |
| Affilliation | Hospital das Clínicas do Acre. Rio Branco, AC. | pt_BR |
| Affilliation | Universidade Federal do Espírito Santo. Hospital Universitário Cassiano Antonio de Moraes. Vitória, ES, Brasil | pt_BR |
| Subject | Mucopolysaccharidosis VI | pt_BR |
| Subject | MPS VI | pt_BR |
| Subject | Lysosomal Storage Disorder | pt_BR |
| Subject | Galsulfase | pt_BR |
| Subject | Enzyme Replacement Therapy | pt_BR |
| DeCS | Mucopolissacaridose IV | pt_BR |
| DeCS | Doenças por Armazenamento dos Lisossomos | pt_BR |
| DeCS | Terapia de Reposição de Enzimas | pt_BR |
