Enzyme replacement therapy for mucopolysaccharidosis VI--experience in Taiwan

J Inherit Metab Dis. 2010 Dec:33 Suppl 3:S421-7. doi: 10.1007/s10545-010-9212-5. Epub 2010 Oct 6.

Abstract

Information regarding the clinical outcome of enzyme replacement therapy (ERT) with recombinant human N-acetylgalactosamine 4-sulfatase (rhASB) for mucopolysaccharidosis (MPS) VI in Asian patients is limited. We reviewed nine Taiwanese patients with MPS VI (four males and five females; age range 1.4-21.1 years) treated with weekly intravenous infusions of rhASB (1.0 mg/kg) for at least 2 years. We assessed the biochemical and clinical response every 3 months. After 2 years of treatment, seven patients experienced improvement over baseline in the 6-min walk by a mean of 69.3 m (27.3%), and seven also increased the 3-min stair climb by a mean of 47 steps (35.7%). Shoulder range of motion in all patients improved, and Joint Pain and Stiffness Questionnaire scores improved by 0.597 points (30.5%). Four patients had improved pulmonary function [forced expiratory volume in 1 s increased by 0.130 L (26.3%) and forced vital capacity by 0.148 L (27.6%)]. The respiratory disturbance index decreased in the four patients who underwent polysomnography. A mean overall 51% decrease in urinary glycosaminoglycan excretion indicated a satisfactory biochemical response. ERT was well tolerated by all patients. This treatment is thus beneficial and appears to be safe for treatment of MPS VI in Taiwanese patients.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Biomarkers / urine
  • Biomechanical Phenomena
  • Child
  • Child, Preschool
  • Enzyme Replacement Therapy*
  • Exercise Tolerance / drug effects
  • Female
  • Forced Expiratory Volume
  • Glycosaminoglycans / urine
  • Humans
  • Infant
  • Lung / drug effects
  • Lung / physiopathology
  • Male
  • Mucopolysaccharidosis IV / diagnosis
  • Mucopolysaccharidosis IV / drug therapy*
  • Mucopolysaccharidosis IV / enzymology
  • Mucopolysaccharidosis IV / epidemiology
  • Mucopolysaccharidosis IV / physiopathology
  • N-Acetylgalactosamine-4-Sulfatase / therapeutic use*
  • Range of Motion, Articular
  • Recombinant Proteins / therapeutic use
  • Recovery of Function
  • Retrospective Studies
  • Shoulder Joint / drug effects
  • Shoulder Joint / physiopathology
  • Taiwan / epidemiology
  • Time Factors
  • Treatment Outcome
  • Vital Capacity
  • Young Adult

Substances

  • Biomarkers
  • Glycosaminoglycans
  • Recombinant Proteins
  • N-Acetylgalactosamine-4-Sulfatase