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 UFBA |
| Texto Completo: | http://repositorio.ufba.br/ri/handle/ri/13434 |
Resumo: | Texto completo. Acesso restrito. p. 62-69 |
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Horovitz, Dafne Dain GandelmanMagalhães, Tatiana S. P. C.Acosta, Angelina XavierRibeiro, Erlane MarquesGiuliani, Liane de RossoPalhares, Durval BatistaKim, Chong AePaula, Ana Carolina deKerstenestzy, MarceloPianovski, Mara Albonei DudequeCosta, Maria Ione FerreiraSantos, Francisca C.Martins, Ana MariaAranda, Carolina SanchezCorrea Neto, JordãoHolanda, Gervina Brady MoreiraCardoso Junior, LaércioSilva, Carlos A. B. daBonatti, Renata Cristina FranzonRibeiro, Bethânia de Freitas RodriguesRodrigues, Maria do Carmo S.Llerena Junior, Juan ClintonHorovitz, Dafne Dain GandelmanMagalhães, Tatiana S. P. C.Acosta, Angelina XavierRibeiro, Erlane MarquesGiuliani, Liane de RossoPalhares, Durval BatistaKim, Chong AePaula, Ana Carolina deKerstenestzy, MarceloPianovski, Mara Albonei DudequeCosta, Maria Ione FerreiraSantos, Francisca C.Martins, Ana MariaAranda, Carolina SanchezCorrea Neto, JordãoHolanda, Gervina Brady MoreiraCardoso Junior, LaércioSilva, Carlos A. B. daBonatti, Renata Cristina FranzonRibeiro, Bethânia de Freitas RodriguesRodrigues, Maria do Carmo S.Llerena Junior, Juan Clinton2013-10-31T18:11:52Z20131096-7192http://repositorio.ufba.br/ri/handle/ri/13434v. 109, n. 1Texto completo. Acesso restrito. p. 62-69Background 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.Submitted by Santiago Fabio (fabio.ssantiago@hotmail.com) on 2013-06-12T20:35:24Z No. of bitstreams: 1 44444444444444444.pdf: 651320 bytes, checksum: b04f6729f587dea82bdb8496e205fa34 (MD5)Approved for entry into archive by Rodrigo Meirelles (rodrigomei@ufba.br) on 2013-10-31T18:11:52Z (GMT) No. of bitstreams: 1 44444444444444444.pdf: 651320 bytes, checksum: b04f6729f587dea82bdb8496e205fa34 (MD5)Made available in DSpace on 2013-10-31T18:11:52Z (GMT). No. of bitstreams: 1 44444444444444444.pdf: 651320 bytes, checksum: b04f6729f587dea82bdb8496e205fa34 (MD5) Previous issue date: 2013SalvadorMolecular Genetics and Metabolismhttp://dx.doi.org/10.1016/j.ymgme.2013.02.014reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBAMucopolysaccharidosis VIMPS VILysosomal storage disorderGalsulfaseEnzyme replacement therapyPediatricEnzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VIMolecular Genetics and Metabolisminfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10000-01-01info:eu-repo/semantics/openAccessengORIGINAL44444444444444444.pdf44444444444444444.pdfapplication/pdf651320https://repositorio.ufba.br/bitstream/ri/13434/1/44444444444444444.pdfb04f6729f587dea82bdb8496e205fa34MD51LICENSElicense.txtlicense.txttext/plain1762https://repositorio.ufba.br/bitstream/ri/13434/2/license.txt1b89a9a0548218172d7c829f87a0eab9MD52TEXT44444444444444444.pdf.txt44444444444444444.pdf.txtExtracted texttext/plain41676https://repositorio.ufba.br/bitstream/ri/13434/3/44444444444444444.pdf.txt0861fe6e8a1c09f491bb1acb7691fa57MD53ri/134342022-07-05 14:03:15.103oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-07-05T17:03:15Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false |
| dc.title.pt_BR.fl_str_mv |
Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI |
| dc.title.alternative.pt_BR.fl_str_mv |
Molecular Genetics and Metabolism |
| 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 Dain Gandelman 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 Dain Gandelman |
| author_facet |
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 |
| author_role |
author |
| author2 |
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 |
| 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.author.fl_str_mv |
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 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 |
| 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 |
Texto completo. Acesso restrito. p. 62-69 |
| publishDate |
2013 |
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2013-10-31T18:11:52Z |
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2013 |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
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http://repositorio.ufba.br/ri/handle/ri/13434 |
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1096-7192 |
| dc.identifier.number.pt_BR.fl_str_mv |
v. 109, n. 1 |
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1096-7192 v. 109, n. 1 |
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http://repositorio.ufba.br/ri/handle/ri/13434 |
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eng |
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eng |
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info:eu-repo/semantics/openAccess |
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openAccess |
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Molecular Genetics and Metabolism |
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Molecular Genetics and Metabolism |
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http://dx.doi.org/10.1016/j.ymgme.2013.02.014 |
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reponame:Repositório Institucional da UFBA instname:Universidade Federal da Bahia (UFBA) instacron:UFBA |
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Universidade Federal da Bahia (UFBA) |
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