The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus

• DOI: 10.1007/s00431-011-1606-3
• Publication Date: 2011-10-28T05:14:41Z
• Authors: Joseph Muenzer; Olaf Bodamer; Barbara Burton; Lorne Clarke; Gudrun Schulze Fr...; Roberto Giugliani; Simon Jones; Maria Verónica Mu...; Maurizio Scarpa; Michael Beck; Paul Harmatz
• Keywords: Clinical Sciences; 610; Idursulfase; Iduronate Sulfatase; Pediatrics; Severe phenotype; Paediatrics and Reproductive Medicine; 03 medical and health sciences; Rare Diseases; 0302 clinical medicine; Clinical Research; 616; Humans; Enzyme Replacement Therapy; Pediatrics, Perinatology, and Child Health; Mucopolysaccharidosis II; Original Paper; Biomedical and Clinical Sciences; Paediatrics; 3. Good health; Cognitive impairment; Phenotype; Treatment Outcome; Enzyme replacement therapy; Practice Guidelines as Topic; Public Health and Health Services; Disease Progression; Hunter syndrome

Intravenous enzyme replacement therapy (ERT) with idursulfase for Hunter syndrome has not been demonstrated to and is predicted cross the blood-brain barrier. Nearly all published experience ERT therefore in patients without cognitive impairment (attenuated phenotype). Little formal guidance available on issues surrounding cognitively impaired severe phenotype. An expert panel was convened provide these issues. The clinical of 66 suggests that somatic improvements (e.g., reduction liver volume, increased mobility, frequency respiratory infections) may occur most patients. Cognitive benefits have seen. It agreed that, general, are candidates at least a 6-12-month trial ERT, excluding who severely neurologically impaired, those vegetative state, or condition lead near-term death. imperative treating physician discuss goals treatment, methods assessment response, criteria discontinuation treatment family before initiated.The decision initiate should be made by parents must based realistic expectations risks, understanding withdrawn absence demonstrable benefits.