Enzyme Replacement Therapy For Mucopolysaccharidosis Type I Among Patients Followed Within The Mps Brazil Network.

dc.creatorDornelles, Alícia Dorneles
dc.creatorde Camargo Pinto, Louise Lapagesse
dc.creatorde Paula, Ana Carolina
dc.creatorSteiner, Carlos Eduardo
dc.creatorLourenço, Charles Marques
dc.creatorKim, Chong Ae
dc.creatorHorovitz, Dafne Dain Gandelman
dc.creatorRibeiro, Erlane Marques
dc.creatorValadares, Eugênia Ribeiro
dc.creatorGoulart, Isabela
dc.creatorNeves de Souza, Isabel C
dc.creatorda Costa Neri, João Ivanildo
dc.creatorSantana-da-Silva, Luiz Carlos
dc.creatorSilva, Luiz Roberto
dc.creatorRibeiro, Márcia
dc.creatorde Oliveira Sobrinho, Ruy Pires
dc.creatorGiugliani, Roberto
dc.creatorSchwartz, Ida Vanessa Doederlein
dc.date2014-Mar
dc.date2015-11-27T13:42:14Z
dc.date2015-11-27T13:42:14Z
dc.date.accessioned2018-03-29T01:20:17Z
dc.date.available2018-03-29T01:20:17Z
dc.identifierGenetics And Molecular Biology. v. 37, n. 1, p. 23-9, 2014-Mar.
dc.identifier1415-4757
dc.identifier
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/24688287
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/201277
dc.identifier24688287
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1301510
dc.descriptionMucopolysaccharidosis 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.
dc.description37
dc.description23-9
dc.languageeng
dc.relationGenetics And Molecular Biology
dc.relationGenet. Mol. Biol.
dc.rightsaberto
dc.rights
dc.sourcePubMed
dc.subjectLaronidase
dc.subjectMucopolysaccharidosis Type I
dc.subjectAlpha-l-iduronidase
dc.subjectEnzyme Replacement Therapy
dc.titleEnzyme Replacement Therapy For Mucopolysaccharidosis Type I Among Patients Followed Within The Mps Brazil Network.
dc.typeArtículos de revistas


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