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

• Autor(a) principal: Dornelles, Alícia Dorneles
• Data de Publicação: 2014
• Outros Autores: 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
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFRGS
• Texto Completo: http://hdl.handle.net/10183/100107
• topic: Mucopolissacaridose I; Terapia de reposição enzimática; Enzyme replacement therapy; Laronidase; Mucopolysaccharidosis type I; Alpha-L-iduronidase

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.