A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II.

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Abstract

Approximately two-thirds of patients with the lysosomal storage disease mucopolysaccharidosis II have progressive cognitive impairment. Intravenous (i.v.) enzyme replacement therapy does not affect cognitive impairment because recombinant iduronate-2-sulfatase (idursulfase) does not penetrate the blood-brain barrier at therapeutic concentrations. We examined the safety of idursulfase formulated for intrathecal administration (idursulfase-IT) via intrathecal drug delivery device (IDDD). A secondary endpoint was change in concentration of glycosaminoglycans in cerebrospinal fluid.

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Journal

Journal ID (iso-abbrev): Genet. Med.

Title: Genetics in medicine : official journal of the American College of Medical Genetics

Publisher: Springer Nature

ISSN (Electronic): 1530-0366

ISSN (Print): 1098-3600

Publication date (Electronic): Jan 2016

Volume: 18

Issue: 1

Affiliations

[1 ] Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

[2 ] Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.

[3 ] Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

[4 ] Department of Neurosurgery, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

[5 ] Department of Paediatric Neurosurgery, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.

[6 ] Shire, Lexington, Massachusetts, USA.

Article

Publisher Item ID: gim201536

DOI: 10.1038/gim.2015.36

PubMed ID: 25834948

SO-VID: d39083bd-f700-4e71-b434-47ec9cdb17a8

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