Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series.

ABSTRACT:

Introduction

No published clinical trial data are available to inform the use of enzyme replacement therapy (ERT) in patients with the severe (neuropathic) phenotype of mucopolysaccharidosis II (MPS II). Current guidelines recommend ERT administered intravenously be used on a trial basis in this population.

Aims/methods

A retrospective chart review was conducted at five international centers for this case series of 22 patients with neuropathic MPS II who received intravenous idursulfase 0.5 mg/kg weekly for at least 2 consecutive years. We collected data about urinary glycosaminoglycan levels, adverse events, and the following somatic signs/symptoms: skeletal disease, joint range of motion, liver/spleen size, respiratory infections, cardiac disease, diarrhea, skin/hair textu

SUBMITTER: Lampe C 

PROVIDER: S-EPMC4158409 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature