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

ABSTRACT:

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Intravenous enzyme replacement therapy (ERT) with idursulfase for Hunter syndrome has not been demonstrated to and is not predicted to cross the blood-brain barrier. Nearly all published experience with ERT with idursulfase has therefore been in patients without cognitive impairment (attenuated phenotype). Little formal guidance is available on the issues surrounding ERT in cognitively impaired patients with the severe phenotype. An expert panel was therefore convened to provide guidance on these issues. The clinical experience of the panel with 66 patients suggests that somatic improvements (e.g., reduction in liver volume, increased mobility, and reduction in frequency of respiratory infections) may occur in most severe patients. Cognitive benefits have not been seen.

SUBMITTER: Muenzer J 

PROVIDER: S-EPMC3249184 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature