Produção Nacional
Revisado por pares
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network
2014; Brazilian Society of Genetics; Volume: 37; Issue: 1 Linguagem: Inglês
10.1590/s1415-47572014000100006
ISSN1678-4685
AutoresAlícia Dorneles Dornelles, Louise Lapagesse de Camargo Pinto, Ana Paula, Carlos Eduardo Steiner, Charles Marques Lourenço, Chong Ae Kim, Dafne Dain Gandelman Horovitz, Erlane Marques Ribeiro, Eugênia Ribeiro Valadares, Isabela Maria Bernardes Goulart, Isabel Cristina Neves de Souza, João Ivanildo da Costa Neri, Luiz Carlos Santana da Silva, Luiz Roberto Silva, Márcia Gonçalves Ribeiro, Ruy Pires de Oliveira Sobrinho, Roberto Giuglianiand, Ida Vanessa Döederlein Schwartz,
Tópico(s)Biomedical Research and Pathophysiology
ResumoMucopolysaccharidosis 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.
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