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

Detalhes bibliográficos
Autor(a) principal: Horovitz, Dafne D. G.
Data de Publicação: 2013
Outros Autores: 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 documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNIFESP
Texto Completo: http://dx.doi.org/10.1016/j.ymgme.2013.02.014
http://repositorio.unifesp.br/handle/11600/36234
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.
id UFSP_e87447f078940a357539e8cfc2332705
oai_identifier_str oai:repositorio.unifesp.br/:11600/36234
network_acronym_str UFSP
network_name_str Repositório Institucional da UNIFESP
repository_id_str 3465
spelling Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VIMucopolysaccharidosis VIMPS VILysosomal storage disorderGalsulfaseEnzyme replacement therapyPediatricBackground: 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.Fiocruz MS, Inst Nacl Saude Mulher Crianca & Adolescente Fern, Ctr Genet Med, BR-22250020 Rio de Janeiro, RJ, BrazilUniv Fed Bahia, Serv Genet Med, Salvador, BA, BrazilHosp Albert Sabin, Fortaleza, Ceara, BrazilUniv Fed Mato Grosso do Sul, Fac Med, Campo Grande, MS USAUniv São Paulo, Inst Crianca, São Paulo, BrazilHosp Barao de Lucena, Recife, PE, BrazilUniv Fed Parana, Hosp Clin, BR-80060000 Curitiba, Parana, BrazilCtr Reabilitacao Infantil, Natal, RN, BrazilHosp Univ Maranhao, Sao Luis, MA, BrazilUniversidade Federal de São Paulo, Ctr Referencia Erros Inatos Metab, São Paulo, SP, BrazilHosp São Paulo, Enzyme Replacement Therapy Serv, Hosp & Maternidade Celso Pierro, São Paulo, BrazilUniv Fed Rio Grande do Norte, HOSPED, Hosp Pediat Prof Heriberto Ferreira Bezerra, Natal, RN, BrazilUniv Fortaleza, Fortaleza, Ceara, BrazilUniv Fed Rio Grande do Norte, BR-59072970 Natal, RN, BrazilUniv Fed Triangulo Mineiro, Uberaba, MG, BrazilHosp Clin Acre, Rio Branco, AC, BrazilUniv Fed Espirito Santo, HUCAM, Vitoria, ES, BrazilUniversidade Federal de São Paulo, Ctr Referencia Erros Inatos Metab, São Paulo, SP, BrazilHosp São Paulo, Enzyme Replacement Therapy Serv, Hosp & Maternidade Celso Pierro, São Paulo, BrazilWeb of ScienceBioMarin Pharmaceutical Inc.ShireGenzymeBioMarinElsevier B.V.Fiocruz MSUniversidade Federal da Bahia (UFBA)Hosp Albert SabinUniversidade Federal de Mato Grosso do Sul (UFMS)Universidade de São Paulo (USP)Hosp Barao de LucenaUniv Fed ParanaCtr Reabilitacao InfantilHosp Univ MaranhaoUniversidade Federal de São Paulo (UNIFESP)Univ Fed Rio Grande do NorteUniv FortalezaUniv Fed Triangulo MineiroHosp Clin AcreUniv Fed Espirito SantoHorovitz, Dafne D. G.Magalhaes, Tatiana S. P. C.Acosta, AngelinaRibeiro, Erlane M.Giuliani, Liane R.Palhares, Durval B.Kim, Chong A.Paula, Ana Carolina deKerstenestzy, MarceloPianovski, Mara A. D.Costa, Maria Ione F.Santos, Francisca C.Martins, Ana Maria [UNIFESP]Aranda, Carolina Sanchez [UNIFESP]Correa Neto, JordaoMoreira Holanda, Gervina BradyCardoso, LaercioSilva, Carlos A. B. daBonatti, Renata C. F.Ribeiro, Bethania F. R.Rodrigues, Maria do Carmo S.Llerena, Juan C.2016-01-24T14:31:37Z2016-01-24T14:31:37Z2013-05-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion62-69application/pdfhttp://dx.doi.org/10.1016/j.ymgme.2013.02.014Molecular Genetics and Metabolism. San Diego: Academic Press Inc Elsevier Science, v. 109, n. 1, p. 62-69, 2013.10.1016/j.ymgme.2013.02.014WOS000318055100011.pdf1096-7192http://repositorio.unifesp.br/handle/11600/36234WOS:000318055100011engMolecular Genetics and Metabolisminfo:eu-repo/semantics/openAccesshttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policyreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2024-07-30T21:47:26Zoai:repositorio.unifesp.br/:11600/36234Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-07-30T21:47:26Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false
dc.title.none.fl_str_mv Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI
title Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI
spellingShingle Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI
Horovitz, Dafne D. G.
Mucopolysaccharidosis VI
MPS VI
Lysosomal storage disorder
Galsulfase
Enzyme replacement therapy
Pediatric
title_short Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI
title_full Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI
title_fullStr Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI
title_full_unstemmed Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI
title_sort Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI
author Horovitz, Dafne D. G.
author_facet 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.
author_role author
author2 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.
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv 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
dc.contributor.author.fl_str_mv 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.
dc.subject.por.fl_str_mv Mucopolysaccharidosis VI
MPS VI
Lysosomal storage disorder
Galsulfase
Enzyme replacement therapy
Pediatric
topic Mucopolysaccharidosis VI
MPS VI
Lysosomal storage disorder
Galsulfase
Enzyme replacement therapy
Pediatric
description 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.
publishDate 2013
dc.date.none.fl_str_mv 2013-05-01
2016-01-24T14:31:37Z
2016-01-24T14:31:37Z
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://dx.doi.org/10.1016/j.ymgme.2013.02.014
Molecular Genetics and Metabolism. San Diego: Academic Press Inc Elsevier Science, v. 109, n. 1, p. 62-69, 2013.
10.1016/j.ymgme.2013.02.014
WOS000318055100011.pdf
1096-7192
http://repositorio.unifesp.br/handle/11600/36234
WOS:000318055100011
url http://dx.doi.org/10.1016/j.ymgme.2013.02.014
http://repositorio.unifesp.br/handle/11600/36234
identifier_str_mv Molecular Genetics and Metabolism. San Diego: Academic Press Inc Elsevier Science, v. 109, n. 1, p. 62-69, 2013.
10.1016/j.ymgme.2013.02.014
WOS000318055100011.pdf
1096-7192
WOS:000318055100011
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Molecular Genetics and Metabolism
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
http://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
eu_rights_str_mv openAccess
rights_invalid_str_mv http://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.format.none.fl_str_mv 62-69
application/pdf
dc.publisher.none.fl_str_mv Elsevier B.V.
publisher.none.fl_str_mv Elsevier B.V.
dc.source.none.fl_str_mv reponame:Repositório Institucional da UNIFESP
instname:Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
instname_str Universidade Federal de São Paulo (UNIFESP)
instacron_str UNIFESP
institution UNIFESP
reponame_str Repositório Institucional da UNIFESP
collection Repositório Institucional da UNIFESP
repository.name.fl_str_mv Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)
repository.mail.fl_str_mv biblioteca.csp@unifesp.br
_version_ 1814268319370313728