Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2014 |
| Outros Autores: | , , , , , , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | por |
| Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
| Texto Completo: | https://www.arca.fiocruz.br/handle/icict/8529 |
Resumo: | 2015-11-30 |
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Dornelles, Alícia DornelesPinto, Louise Lapagesse de CamargoPaula, Ana Carolina deSteiner, Carlos EduardoLourenço, Charles MarquesChong, Ae KimHorovitz, Dafne Dain GandelmanRibeiro, Erlane MarquesValadares, Eugênia RibeiroGoulart, IsabelaSouza, Isabel C. Neves deNeri, João Ivanildo da CostaSilva, Luiz Carlos Santana daSilva, Luiz RobertoRibeiro, MárciaOliveira Sobrinho, Ruy Pires deGiugliani, RobertoSchwartz, Ida Vanessa Doederlein2014-10-07T19:31:40Z2015-12-01T06:30:05Z2014DORNELLES, Alícia Dorneles et al. Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network. Genetics and Molecular Biology, Ribeirão Preto, v. 37, n. 1, p. 23-29, 2014.1415-4757https://www.arca.fiocruz.br/handle/icict/852910.1590/S1415-47572014000100006porSociedade Brasileira de GenéticaEnzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Networkinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article2015-11-30Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Rio de Janeiro, RJ, Brasil.Hospital Infantil Joana de Gusmão. Serviço de Genética Médica. Florianópolis, SC, Brasil.Hospital Municipal da Criança e Adolescente, Guarulhos, SP, Brasil.Universidade Estadual de Campinas. Departamento de Genética Médica. Campinas, SP, Brasil.Universidade de São Paulo. Hospital das Clínicas de Ribeirão Preto. Ribeirão Preto, SP, Brasil.Universidade de São Paulo. Instituto da Criança. Hospital das Clínicas da Faculdade de Medicina. São Paulo, SP, Brasil.Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Rio de Janeiro, RJ, Brasil.Hospital Infantil Albert Sabin. Serviço de Genética Médica. Fortaleza, CE, Brasil.Universidade Federal de Minas Gerais. Hospital das Clínicas. Ambulatório de Erros Inatos do Metabolismo. Belo Horizonte, MG, Brasil.Universidade Federal de Uberlândia. Hospital de Clínicas. Uberlândia, MG, Brasil.Universidade Federal do Pará. Hospital Universitário Bettina Ferro de Souza. Belém, PA, Brasil.Parnamirim (Cidade). Ambulatório de Genética Clínica. Parnamirim, RN, Brasil.Universidade Federal do Pará. Instituto de Ciências Biológicas. Laboratório de Erros Inatos do Metabolismo. Belém, PA, Brasil.Universidade Federal de Uberlândia. Hospital de Clínicas. Uberlândia, MG, Brasil.Universidade Federal do Rio de Janeiro. Instituto de Puericultura e Pediatria Martagão Gesteira. Faculdade de Medicina. Rio de Janeiro, RJ, Brasil.Universidade Estadual de Campinas. Departamento de Genética Médica, , Campinas, SP, Brasil.Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Rio de Janeiro, RJ, Brasil / Universidade Federal do Rio Grande do Sul. Departamento de Genética. Porto Alegre, RS, Brasil.Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Rio de Janeiro, RJ, Brasil / Universidade Federal do Rio Grande do Sul. Departamento de Genética. Porto Alegre, RS, Brasil.Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alpha-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label, non-randomized, multicenter cohort study of patients with MPS I. Data were collected from questionnaires completed by attending physicians at the time of diagnosis (T1; n = 34) and at a median time of 2.5 years later (T2; n = 24/34). The 24 patients for whom data were available at T2 were allocated into groups: A, no ERT (9 patients; median age at T1 = 36 months; 6 with severe phenotype); B, on ERT (15 patients; median age at T1 = 33 months; 4 with severe phenotype). For all variables in which there was no between-group difference at baseline, a delta of 20% was considered clinically relevant. The following clinically relevant differences were identified in group B in T2: lower rates of mortality and reported hospitalization for respiratory infection; lower frequency of hepatosplenomegaly; increased reported rates of obstructive sleep apnea syndrome and hearing loss; and stabilization of gibbus deformity. These changes could be due to the effect of ERT or of other therapies which have also been found more frequently in group B. Our findings suggest MPS I patients on ERT also receive a better overall care. ERT may have a positive effect on respiratory morbidity and overall mortality in patients with MPS I. Additional studies focusing on these outcomes and on other therapies should be performed.Enzyme Replacement TherapyLaronidaseMucopolysaccharidosis Type IAlpha-L-iduronidaseinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZORIGINALEnzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network.pdfapplication/pdf467011https://www.arca.fiocruz.br/bitstream/icict/8529/1/Enzyme%20replacement%20therapy%20for%20Mucopolysaccharidosis%20Type%20I%20among%20patients%20followed%20within%20the%20MPS%20Brazil%20Network.pdff1da0c114c1a5186d7861f67804b69e3MD51LICENSElicense.txttext/plain1914https://www.arca.fiocruz.br/bitstream/icict/8529/2/license.txt7d48279ffeed55da8dfe2f8e81f3b81fMD52TEXTEnzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network.pdf.txtEnzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network.pdf.txtExtracted texttext/plain36173https://www.arca.fiocruz.br/bitstream/icict/8529/3/Enzyme%20replacement%20therapy%20for%20Mucopolysaccharidosis%20Type%20I%20among%20patients%20followed%20within%20the%20MPS%20Brazil%20Network.pdf.txtcbad6c54283b972fa19f160690eb51e0MD53icict/85292021-02-10 19:37:59.74oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352021-02-10T22:37:59Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false |
| dc.title.pt_BR.fl_str_mv |
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network |
| title |
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network |
| spellingShingle |
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network Dornelles, Alícia Dorneles Enzyme Replacement Therapy Laronidase Mucopolysaccharidosis Type I Alpha-L-iduronidase |
| title_short |
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network |
| title_full |
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network |
| title_fullStr |
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network |
| title_full_unstemmed |
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network |
| title_sort |
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network |
| author |
Dornelles, Alícia Dorneles |
| author_facet |
Dornelles, Alícia Dorneles Pinto, Louise Lapagesse de Camargo Paula, Ana Carolina de Steiner, Carlos Eduardo Lourenço, Charles Marques Chong, Ae Kim Horovitz, Dafne Dain Gandelman Ribeiro, Erlane Marques Valadares, Eugênia Ribeiro Goulart, Isabela Souza, Isabel C. Neves de Neri, João Ivanildo da Costa Silva, Luiz Carlos Santana da Silva, Luiz Roberto Ribeiro, Márcia Oliveira Sobrinho, Ruy Pires de Giugliani, Roberto Schwartz, Ida Vanessa Doederlein |
| author_role |
author |
| author2 |
Pinto, Louise Lapagesse de Camargo Paula, Ana Carolina de Steiner, Carlos Eduardo Lourenço, Charles Marques Chong, Ae Kim Horovitz, Dafne Dain Gandelman Ribeiro, Erlane Marques Valadares, Eugênia Ribeiro Goulart, Isabela Souza, Isabel C. Neves de Neri, João Ivanildo da Costa Silva, Luiz Carlos Santana da Silva, Luiz Roberto Ribeiro, Márcia Oliveira Sobrinho, Ruy Pires de Giugliani, Roberto Schwartz, Ida Vanessa Doederlein |
| author2_role |
author author author author author author author author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
Dornelles, Alícia Dorneles Pinto, Louise Lapagesse de Camargo Paula, Ana Carolina de Steiner, Carlos Eduardo Lourenço, Charles Marques Chong, Ae Kim Horovitz, Dafne Dain Gandelman Ribeiro, Erlane Marques Valadares, Eugênia Ribeiro Goulart, Isabela Souza, Isabel C. Neves de Neri, João Ivanildo da Costa Silva, Luiz Carlos Santana da Silva, Luiz Roberto Ribeiro, Márcia Oliveira Sobrinho, Ruy Pires de Giugliani, Roberto Schwartz, Ida Vanessa Doederlein |
| dc.subject.en.pt_BR.fl_str_mv |
Enzyme Replacement Therapy Laronidase Mucopolysaccharidosis Type I Alpha-L-iduronidase |
| topic |
Enzyme Replacement Therapy Laronidase Mucopolysaccharidosis Type I Alpha-L-iduronidase |
| description |
2015-11-30 |
| publishDate |
2014 |
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2014-10-07T19:31:40Z |
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2014 |
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2015-12-01T06:30:05Z |
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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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DORNELLES, Alícia Dorneles et al. Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network. Genetics and Molecular Biology, Ribeirão Preto, v. 37, n. 1, p. 23-29, 2014. |
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https://www.arca.fiocruz.br/handle/icict/8529 |
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1415-4757 |
| dc.identifier.doi.pt_BR.fl_str_mv |
10.1590/S1415-47572014000100006 |
| identifier_str_mv |
DORNELLES, Alícia Dorneles et al. Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network. Genetics and Molecular Biology, Ribeirão Preto, v. 37, n. 1, p. 23-29, 2014. 1415-4757 10.1590/S1415-47572014000100006 |
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Sociedade Brasileira de Genética |
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Sociedade Brasileira de Genética |
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