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Enzyme replacement therapy for mucopolysaccharidosis type I among patients followed within the MPS Brazil network

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Enzyme replacement therapy for mucopolysaccharidosis type I among patients followed within the MPS Brazil network

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Título Enzyme replacement therapy for mucopolysaccharidosis type I among patients followed within the MPS Brazil network
Autor Dornelles, Alícia Dorneles
Pinto, Louise Lapagesse de Camargo
Paula, Ana Carolina de
Steiner, Carlos Eduardo
Lourenço, Charles Marques
Kim, Chong Ae
Horowitz, Dafne Dain Gandelman
Ribeiro, Erlane Marques
Valadares, Eugênia Ribeiro
Goulart, Isabela
Souza, Isabel Cristina Neves de
Neri, João Ivanildo da Costa
Silva, Luiz Carlos Santana da
Silva, Luiz Roberto da
Ribeiro, Márcia Gonçalves
Oliveira Sobrinho, Ruy Pires de
Giugliani, Roberto
Schwartz, Ida Vanessa Doederlein
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.
Contido em Genetics and molecular biology. Ribeirão Preto. Vol. 37, n. 1 (Mar. 2014), p. 23-29
Assunto Mucopolissacaridose I
Terapia de reposição enzimática
[en] Alpha-L-iduronidase
[en] Enzyme replacement therapy
[en] Laronidase
[en] Mucopolysaccharidosis type I
Origem Nacional
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/100107
Arquivos Descrição Formato
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