Enzyme replacement therapy for mucopolysaccharidosis type I among patients followed within the MPS Brazil network
| Autor: | Carlos Eduardo Steiner, Ana Carolina de Paula, Luiz Carlos Santana-da-Silva, Joao Ivanildo Neri, Alícia Dorneles Dornelles, Louise Lapagesse de Camargo Pinto, Erlane Marques Ribeiro, Ida Vanessa Doederlein Schwartz, Dafne Dain Gandelman Horovitz, Charles Marques Lourenço, Márcia Gonçalves Ribeiro, Luiz Roberto da Silva, Ruy Pires de Oliveira Sobrinho, Chong Ae Kim, Isabel Cristina Neves de Souza, Roberto Giuglianiand, Isabela Maria Bernardes Goulart, Eugênia Ribeiro Valadares |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2014 |
| Předmět: |
medicine.medical_specialty
congenital hereditary and neonatal diseases and abnormalities Alpha-L-iduronidase lcsh:QH426-470 Hepatosplenomegaly Gibbus deformity Biology Alph-L-eduronidase Mucopolysaccharidosis type I Internal medicine Genetics medicine Laronidase Mucopolysaccharidosis Type I alph-L-iduronidase Molecular Biology Respiratory infection nutritional and metabolic diseases Enzyme replacement therapy medicine.disease Mucopolissacaridose I Clinical trial Obstructive sleep apnea lcsh:Genetics Mucopolissacaridose tipo 1 Terapia de reposição enzimática Human and Medical Genetics medicine.symptom alpha-L-iduronidase Research Article enzyme replacement therapy Cohort study |
| Zdroj: | Repositório Institucional da UFRGS Universidade Federal do Rio Grande do Sul (UFRGS) instacron:UFRGS Genetics and Molecular Biology, Volume: 37, Issue: 1, Pages: 23-29, Published: 2014 Repositório Institucional da UFPA Universidade Federal do Pará (UFPA) instacron:UFPA ResearcherID Genetics and Molecular Biology, Vol 37, Iss 1, Pp 23-29 (2014) Genetics and Molecular Biology v.37 n.1 2014 Genetics and Molecular Biology Sociedade Brasileira de Genética (SBG) instacron:SBG |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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