Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type ii (hunter syndrome)

dc.contributor.authorSilva, Edina Mariko Koga da [UNIFESP]
dc.contributor.authorStrufaldi, Maria Wany Louzada [UNIFESP]
dc.contributor.authorAndriolo, Regis Bruni
dc.contributor.authorSilva, Laercio Antonio da [UNIFESP]
dc.date.accessioned2019-01-21T10:30:03Z
dc.date.available2019-01-21T10:30:03Z
dc.date.issued2016
dc.description.abstractBackground Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans. The glycosaminoglycans accumulate within tissues affecting multiple organs and physiologic systems. The clinical manifestations include neurologic involvement, severe airways obstruction, skeletal deformities and cardiomyopathy. The disease has a variable age of onset and variable rate of progression. In those with severe disease, death usually occurs in the second decade of life, whereas those individuals with less severe disease may survive into adulthood. Enzyme replacement therapy with intravenous infusions of idursulfase has emerged as a new treatment for mucopolysaccharidosis type II. This is an update of a previously published version of this review. Objectives To evaluate the effectiveness and safety of enzyme replacement therapy with idursulfase compared to other interventions, placebo or no intervention, for treating mucopolysaccharidosis type II. Search methods We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Register (date of last search 23 November 2015). We also searched Embase, PubMed and the Literature Latino-Americana e do Caribe em Ciencias da Saude (LILACS) (date of last search 28 November 2015). Selection criteria Randomised and quasi-randomised controlled trials of enzyme replacement therapy with idursulfase compared to no intervention, placebo or other options (e.g. behavioral strategies, transplantation). Data collection and analysis Two authors independently screened the trials identified, appraised quality of papers and extracted data. Main results One study (96 male participants) met the inclusion criteria, although the primary outcome of this review -z score for height and weight, was not assessed in the study. This trial was considered to be of overall good quality. Following 53 weeks of treatment, participants in the weekly idursulfase 0.5 mg/kg group demonstrated a significant improvement rate compared with placebo for the primary outcome: distance walked in sixminutes on the basis of the sum of ranks of change from baseline, mean difference 37.00 (95% confidence interval 6.52 to 67.48). The every-other-week idursulfase 0.5 mg/kg group also showed an improvement, which was not significant compared with placebo, mean difference 23.00 (95% confidence interval -4.49 to 50.49). After 53 weeks, there was no statistical significance difference in per cent predicted forced vital capacity between the three groups and absolute forced vital capacity was significantly increased from baseline in the weekly dosing group compared to placebo, mean difference 0.16 (95% confidence interval CI 0.05 to 0.27). No difference was observed between the every-other-week idursulfase 0.5 mg/kg group and placebo. In addition, liver and spleen volumes and urine glycosaminoglycan excretion were significantly reduced from baseline by both idursulfase dosing regimens. Idursulfase was generally well tolerated, but infusion reactions did occur. Idursulfase antibodies were detected in 31.7% of participants at the end of the study and they were related to a smaller reduction in urine glycosaminoglycan levels. Authors' conclusions The current evidence is limited. While the randomised clinical trial identified was considered to be of good quality, it failed to describe important outcomes. It has been demonstrated that enzyme replacement therapy with idursulfase is effective in relation to functional capacity (distance walked in six minutes and forced vital capacity), liver and spleen volumes and urine glycosaminoglycan excretion in people with mucopolysaccharidosis type II compared with placebo. There is no available evidence in the included study and in the literature on outcomes such as improvement in growth, sleep apnoea, cardiac function, quality of life and mortality. More studies are needed to obtain more information on the long-term effectiveness and safety of enzyme replacement therapy.en
dc.description.affiliationEmergency Medicine and Evidence Based Medicine, Universidade Federal de São Paulo, São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, São Paulo, Brazil
dc.description.affiliationDepartment of Public Health, Universidade do Estado do Pará, Belém, Brazil
dc.description.affiliationDepartment of Urology,Universidade Federal de São Paulo, São Paulo, Brazil
dc.description.affiliationUnifespEmergency Medicine and Evidence Based Medicine, Universidade Federal de São Paulo, Rua Borges Lagoa 564 Cj 64, BR-04038000 Sao Paulo, SP, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, São Paulo, Brazil
dc.description.affiliationUnifespDepartment of Urology,Universidade Federal de São Paulo, São Paulo, Brazil
dc.description.provenanceMade available in DSpace on 2019-01-21T10:30:03Z (GMT). No. of bitstreams: 0 Previous issue date: 2016. Added 1 bitstream(s) on 2019-01-21T13:30:35Z : No. of bitstreams: 1 WOS000373285000036.pdf: 358865 bytes, checksum: 30619344e2e04f291ec95042bb5651f6 (MD5)en
dc.description.sourceWeb of Science
dc.description.sponsorshipNational Institute for Health Research, UK
dc.description.sponsorshipNational Institute for Health Research
dc.format.extentCD008185
dc.identifierhttps://dx.doi.org/10.1002/14651858.CD008185.pub4
dc.identifier.citationCochrane Database Of Systematic Reviews. Hoboken, n. 2, p. CD008185, 2016.
dc.identifier.doi10.1002/14651858.CD008185.pub4
dc.identifier.fileWOS000373285000036.pdf
dc.identifier.issn1469-493X
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/49548
dc.identifier.wosWOS:000373285000036
dc.language.isoeng
dc.publisherWiley
dc.relation.ispartofCochrane Database Of Systematic Reviews
dc.rightsAcesso aberto
dc.subjectDrug Administration Scheduleen
dc.subjectEnzyme Replacement Therapy [methods]en
dc.subjectIduronate Sulfatase [administration & Dosage] Mucopolysaccharidosis Ii [drug Therapy]en
dc.subjectRandomized Controlled Trials As Topicen
dc.subjectRare Diseases [drug Therapyen
dc.subjectEnzymology]en
dc.subjectHumansI/Ii Clinical-Trialen
dc.subjectOutcome Survey Hosen
dc.subjectPhase-I/Iien
dc.subjectMps-Iien
dc.subjectStorage Disordersen
dc.subjectMetaanalysesen
dc.subjectExperienceen
dc.subjectDiagnosisen
dc.subjectChildrenen
dc.subjectYoungeren
dc.titleEnzyme replacement therapy with idursulfase for mucopolysaccharidosis type ii (hunter syndrome)en
dc.typeRevisão
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