Author | Dornelles, Alícia Dorneles | pt_BR |
Author | Pinto, Louise Lapagesse de Camargo | pt_BR |
Author | Paula, Ana Carolina de | pt_BR |
Author | Steiner, Carlos Eduardo | pt_BR |
Author | Lourenço, Charles Marques | pt_BR |
Author | Chong, Ae Kim | pt_BR |
Author | Horovitz, Dafne Dain Gandelman | pt_BR |
Author | Ribeiro, Erlane Marques | pt_BR |
Author | Valadares, Eugênia Ribeiro | pt_BR |
Author | Goulart, Isabela | pt_BR |
Author | Souza, Isabel C. Neves de | pt_BR |
Author | Neri, João Ivanildo da Costa | pt_BR |
Author | Silva, Luiz Carlos Santana da | pt_BR |
Author | Silva, Luiz Roberto | pt_BR |
Author | Ribeiro, Márcia | pt_BR |
Author | Oliveira Sobrinho, Ruy Pires de | pt_BR |
Author | Giugliani, Roberto | pt_BR |
Author | Schwartz, Ida Vanessa Doederlein | pt_BR |
Access date | 2014-10-07T19:31:40Z | |
Available date | 2015-12-01T06:30:05Z | |
Document date | 2014 | pt_BR |
Citation | 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. | pt_BR |
ISSN | 1415-4757 | pt_BR |
URI | https://www.arca.fiocruz.br/handle/icict/8529 | |
Language | por | pt_BR |
Publisher | Sociedade Brasileira de Genética | pt_BR |
Rights | open access | pt_BR |
Title | Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network | pt_BR |
Type | Article | pt_BR |
DOI | 10.1590/S1415-47572014000100006 | pt_BR |
Abstract | 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. | pt_BR |
Affilliation | Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Hospital Infantil Joana de Gusmão. Serviço de Genética Médica. Florianópolis, SC, Brasil. | pt_BR |
Affilliation | Hospital Municipal da Criança e Adolescente, Guarulhos, SP, Brasil. | pt_BR |
Affilliation | Universidade Estadual de Campinas. Departamento de Genética Médica. Campinas, SP, Brasil. | pt_BR |
Affilliation | Universidade de São Paulo. Hospital das Clínicas de Ribeirão Preto. Ribeirão Preto, SP, Brasil. | pt_BR |
Affilliation | Universidade de São Paulo. Instituto da Criança. Hospital das Clínicas da Faculdade de Medicina. São Paulo, SP, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Hospital Infantil Albert Sabin. Serviço de Genética Médica. Fortaleza, CE, Brasil. | pt_BR |
Affilliation | Universidade Federal de Minas Gerais. Hospital das Clínicas. Ambulatório de Erros Inatos do Metabolismo. Belo Horizonte, MG, Brasil. | pt_BR |
Affilliation | Universidade Federal de Uberlândia. Hospital de Clínicas. Uberlândia, MG, Brasil. | pt_BR |
Affilliation | Universidade Federal do Pará. Hospital Universitário Bettina Ferro de Souza. Belém, PA, Brasil. | pt_BR |
Affilliation | Parnamirim (Cidade). Ambulatório de Genética Clínica. Parnamirim, RN, Brasil. | pt_BR |
Affilliation | Universidade Federal do Pará. Instituto de Ciências Biológicas. Laboratório de Erros Inatos do Metabolismo. Belém, PA, Brasil. | pt_BR |
Affilliation | Universidade Federal de Uberlândia. Hospital de Clínicas. Uberlândia, MG, Brasil. | pt_BR |
Affilliation | Universidade Federal do Rio de Janeiro. Instituto de Puericultura e Pediatria Martagão Gesteira. Faculdade de Medicina. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Universidade Estadual de Campinas. Departamento de Genética Médica, , Campinas, SP, Brasil. | pt_BR |
Affilliation | 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. | pt_BR |
Affilliation | 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. | pt_BR |
Subject | Enzyme Replacement Therapy | pt_BR |
Subject | Laronidase | pt_BR |
Subject | Mucopolysaccharidosis Type I | pt_BR |
Subject | Alpha-L-iduronidase | pt_BR |
Embargo date | 2015-11-30 | |