Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/201277
Type: Artigo de periódico
Title: Enzyme Replacement Therapy For Mucopolysaccharidosis Type I Among Patients Followed Within The Mps Brazil Network.
Author: Dornelles, Alícia Dorneles
de Camargo Pinto, Louise Lapagesse
de Paula, Ana Carolina
Steiner, Carlos Eduardo
Lourenço, Charles Marques
Kim, Chong Ae
Horovitz, Dafne Dain Gandelman
Ribeiro, Erlane Marques
Valadares, Eugênia Ribeiro
Goulart, Isabela
Neves de Souza, Isabel C
da Costa Neri, João Ivanildo
Santana-da-Silva, Luiz Carlos
Silva, Luiz Roberto
Ribeiro, Márcia
de Oliveira Sobrinho, Ruy Pires
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.
Subject: Laronidase
Mucopolysaccharidosis Type I
Alpha-l-iduronidase
Enzyme Replacement Therapy
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/24688287
Date Issue: 2014
Appears in Collections:Unicamp - Artigos e Outros Documentos

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