Data/hora: 16/06/2024 10:25:47

Provedor de dados: | 74
País: | Brazil
Título: | Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network
Autores: | Dornelles,Alícia Dorneles; Pinto,Louise Lapagesse de Camargo; Paula,Ana Carolina de; Steiner,Carlos Eduardo; Lourenço,Charles Marques; Kim,Chong Ae; Horovitz,Dafne Dain Gandelman; Ribeiro,Erlane Marques; Valadares,Eugênia Ribeiro; Goulart,Isabela; Souza,Isabel C. Neves de; Neri,João Ivanildo da Costa; Santana-da-Silva,Luiz Carlos; Silva,Luiz Roberto; Ribeiro,Márcia; Oliveira Sobrinho,Ruy Pires de; Giuglianiand,Roberto; Schwartz,Ida Vanessa Doederlein.
Data: | 2014-01-01
Ano: | 2014
Palavras-chave: | Enzyme replacement therapy; Laronidase; Mucopolysaccharidosis Type I; Alph-L-iduronidase.
Resumo: | Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alph-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.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000100006
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/S1415-47572014000100006
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.37 n.1 2014
Fonte: | info:eu-repo/semantics/openAccess