Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI
Autor(a) principal: | |
---|---|
Data de Publicação: | 2013 |
Outros Autores: | , , , , , , , , , , , , , , , , , , , , |
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 |