title: Home treatment in paediatric patients with Hunter syndrome: the first Italian experience.
abstract: Hunter syndrome (mucopolysaccharidosis type II [MPS II], OMIM309900) is a rare X-linked lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulphatase, resulting in accumulation of glycosaminoglycans, progressive multisystem organ failure, and early death. Enzyme replacement therapy (ERT) with weekly intravenous infusions of idursulfase, a treatment for MPS II and commercially available since 2007, has been shown to improve certain symptoms and signs of the disease. The efficacy and safety data of this enzyme preparation have been widely reported and, after a change to the idursulfase Summary of Product Characteristics in March 2010, home ERT by infusion is now an option for selected patients. Previously reported experiences of home therapy in MPS II have shown increased treatment compliance and an improvement in quality of life for both patients and families. We report the results of the home therapy experience of 3 paediatric patients with MPS II in southern Italy. This pilot experience with home infusion is the first reported from Italy.
authors.affiliation: Department of Paediatrics, University "Magna Graecia" of Catanzaro c/o Ospedale Civile A,Pugliese, Viale Pio X, 88100 Catanzaro, Italy. dconcolino@unicz.it.
authors.forename: Ferdinando
authors.initials: F
authors.lastname: Ceravolo
authors.forename: Italia
authors.initials: I
authors.lastname: Mascaro
authors.forename: Simona
authors.initials: S
authors.lastname: Sestito
authors.forename: Elisa
authors.initials: E
authors.lastname: Pascale
authors.forename: Antonino
authors.initials: A
authors.lastname: Lauricella
authors.forename: Elio
authors.initials: E
authors.lastname: Dizione
authors.forename: Daniela
authors.initials: D
authors.lastname: Concolino
mesh_terms: D000293:Adolescent; D002648:Child; D015331:Cohort Studies; D017046:Cost Savings; D004334:Drug Administration Schedule; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005260:Female; D018718:Home Infusion Therapy / Q000191:economics* / Q000379:methods*; D006801:Humans; D007066:Iduronate Sulfatase / Q000008:administration & dosage* / Q000009:adverse effects; D007262:Infusions, Intravenous; D007558:Italy; D008297:Male; D016532:Mucopolysaccharidosis II / Q000175:diagnosis / Q000188:drug therapy*; D061214:Patient Safety; D018579:Patient Selection; D016896:Treatment Outcome
chemical_list: D007066:Iduronate Sulfatase; C517982:idursulfase