Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome)

Silva, Edina MK da; Strufaldi, Maria Wany Louzada; Andriolo, Régis B; Silva, Laercio A

doi:10.1002/14651858.cd008185.pub3

Cited by 8 publications

(3 citation statements)

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“…The 6MWT test is considered a measure of functional capacity [ 9 ] and has been recently re-allocated from the secondary to the primary outcome evaluations for Hunter patients on ERT [ 33 , 34 ], although a significant limitation to its use is the poor compliance of Hunter patients [ 24 ]. Muscular-skeletal system is one of the districts involved in the 6MWT, together with heart, brain and respiratory functions.…”

Section: Discussionmentioning

confidence: 99%

Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years

Tomanin

Zanetti

D’Avanzo

et al. 2014

Orphanet J Rare Dis

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BackgroundHunter Syndrome is an X-linked lysosomal storage disorder due to the deficit of iduronate 2-sulfatase, an enzyme catalysing the degradation of the glycosaminoglycans (GAG) dermatan- and heparan-sulfate. Treatment of the disease is mainly performed by Enzyme Replacement Therapy (ERT) with idursulfase, in use since 2006. Clinical efficacy of ERT has been monitored mainly by the Hunter Outcome Survey (HOS) while very few independent studies have been so far conducted. The present study is a 3.5-years independent follow-up of 27 Hunter patients, starting ERT between 1.6 and 27 years of age, with the primary aim to evaluate efficacy of the therapy started at an early age (<12 years).MethodsIn this study, we evaluated: urinary GAG content, hepato/splenomegaly, heart valvulopathies, otorinolaryngological symptoms, joint range of motion, growth, distance covered in the 6-minute walk test, neurological involvement. For data analysis, the 27 patients were divided into three groups according to the age at start of ERT: ≤5 years, >5 and ≤ 12 years and > 12 years. Patients were analysed both as 3 separate groups and also as one group; in addition, the 20 patients who started ERT up to 12 years of age were analysed as one group. Finally, patients presenting a “severe” phenotype were compared with “attenuated” ones.ResultsData analysis revealed a statistically significant reduction of the urinary GAG in patients ≤5 years and ≤ 12 years and of the hepatomegaly in the group aged >5 and ≤ 12 years. Although other clinical signs improved in some of the patients monitored, statistical analysis of their variation did not reveal any significant changes following enzyme administration. The evaluation of ERT efficacy in relation to the severity of the disease evidenced slightly higher improvements as for hepatomegaly, splenomegaly, otological disorders and adenotonsillar hypertrophy in severe vs attenuated patients.ConclusionsAlthough the present protocol of idursulfase administration may result efficacious in delaying the MPS II somatic disease progression at some extent, in this study we observed that several signs and symptoms did not improve during the therapy. Therefore, a strict monitoring of the efficacy obtained in the patients under ERT is becoming mandatory for clinical, ethical and economic reasons.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-014-0129-1) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years

Tomanin

Zanetti

D’Avanzo

et al. 2014

Orphanet J Rare Dis

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“…In Brazil, enzyme replacement therapy (ERT) with idursulfase-alfa is available for patients with MPS-II. This treatment improves somatic manifestations such as functional capacity, liver and spleen volumes, and urinary GAG levels; however, it does not cross the blood-brain barrier and therefore does not affect CNS manifestations (da Silva et al, 2016). It remains a significant unmet need for MPS-II patients.…”

Section: Case Studymentioning

confidence: 99%

Untitled

2023

JBES

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Prevalência da esclerose múltipla em pacientes tratados com medicamentos modificadores do curso da doença Informações gerais1. O Jornal Brasileiro de Economia da Saúde (J Bras Econ Saúde) é uma publicação para conteúdos científicos, com periodicidade quadrimestral. É dirigido a pesquisadores e formuladores de políticas de saúde, gestores e avaliadores do processo de incorporação de tecnologias em saúde. Tem como missão, a divulgação do conhecimento produzido pela Economia da Saúde como forma de contribuir para a diminuição dos impactos negativos que podem estar associados aos processos decisórios relativos à incorporação de novas tecnologias, tratamentos e medicamentos. São aceitos para avaliação: estudos de custo da doença, análise econômica em saúde, análise de impacto orçamentário, estudo observacional, ensaio farmacoeconômico, inquérito epidemiológico, avaliação de tecnologias em saúde, formulação de políticas de saúde, planejamento e gerenciamento econômico de serviços de saúde, inovação metodológica e revisão da literatura, sob a forma de artigos originais, artigos de revisão, artigos de atualização e editorias (conforme detalhamento a seguir). Os artigos podem ser submetidos nos idiomas português, espanhol ou inglês. Autores interessados em traduzir seu artigo para inglês podem solicitar um orçamento de tradução ao J Bras Econ Saúde. O Jornal Brasileiro de Economia da Saúde não recebe subsídios financeiros de nenhuma sociedade, instituição governamental ou associação. Trata-se de iniciativa privada e independente. Os recursos responsáveis por seu mantenimento provêm da comercialização do espaço editorial destinado à publicação de artigos cujo desenvolvimento tenha recebido suporte financeiro de empresas privadas. Também são comercializadas cotas de patrocínio institucional. As submissões de artigos não são passíveis de cobrança. A tabela de custos para publicação deve ser consultada junto à Editora.2. Artigos submetidos ao J Bras Econ Saúde devem ser inéditos, isto é, não devem ter sido publicados nem submetidos para análise por outras revistas, no todo ou parcialmente. Em casos de figuras já publicadas, autorização deve ser obtida e a fonte deve ser citada. Uma vez publicados, os Direitos Autorais dos artigos passam a ser de propriedade da Doctor Press Editora responsável pelo J Bras Econ Saúde. As Instruções para Autores do J Bras Econ Saúde incorporam as recomendações dos Uniform Requirements for Manuscripts Submitted to Biomedical Journals.A versão completa do texto está disponível em www.icmje.org. Manuscritos que estiverem em desacordo com as instruções aqui apresentadas serão devolvidos para a incorporação de ajustes antes da avaliação pelo Conselho Editorial. 4. Todo artigo publicado no J Bras Econ Saúde passa pelo processo de revisão por especialistas (peer review). Os artigos submetidos são primeiramente encaminhados aos editores para uma avaliação inicial quanto ao escopo do trabalho e às exigências editoriais do Jornal. Se a avaliação é positiva, o artigo é enviado a dois revisores especialista...

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“…In attenuated MPS I, recombinant human α-L-iduronidase results in short- and medium-term clinical improvements [ 18 ]. Enzymes are unable to cross the blood–brain barrier so provide no cognitive benefit in severe MPS I. Recombinant human iduronate-2-sulfatase is beneficial in severe [ 19 ] and attenuated MPS II [ 20 ]. Although ERT can improve joint range of motion, no improvement is seen in hip dysplasia or genu valgum [ 21 ].…”

Section: Introductionmentioning

confidence: 99%

Characterization of knee alignment in children with mucopolysaccharidosis types I and II and outcome of treatment with guided growth

Ashby

Eastwood

2015

Journal of Children's Orthopaedics

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PurposeTo describe knee alignment in children of different ages with severe mucopolysaccharidosis (MPS) I and II and the outcome of treatment with guided growth in a patient subgroup.MethodsThis is a retrospective observational study of 58 knees in 29 children with severe MPS I and II. Long-leg standing radiographs were evaluated to determine mechanical axis deviation, mechanical lateral distal femoral angle and medial proximal tibial angle at different ages throughout childhood. The change in deformity in individual children over time is reported. 20 knees in 10 patients were treated with guided growth using eight-plates. Radiographic measurements were recorded at the time of plate insertion, at plate removal and at 1 year following removal.ResultsAt 8 years of age, all MPS I children and three-quarters of MPS II children had valgus knee alignment. There was deformity progression in two-thirds of MPS I knees and half of MPS II knees. Guided growth corrected the deformities. There was recurrence in most cases 1 year after plate removal.ConclusionsKnee deformity is common in children with severe MPS I and II. Guided growth can be considered where there is significant and/or or progressive deformity with the aim of halting progression and correcting existing deformity and thus minimizing the risk of gross deformity. Patients should be aware of the high rate of recurrence and the need for repeat surgery.

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Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome)

Abstract: Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).

Cited by 8 publications

References 20 publications

Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years

Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years

Untitled

Characterization of knee alignment in children with mucopolysaccharidosis types I and II and outcome of treatment with guided growth

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