Parental experience of enzyme replacement therapy for Hunter syndrome

Ir Med J. 2013 Apr;106(4):120-2.

Abstract

We aimed to establish the profile of Irish patients with Hunter Syndrome (Mucopolysaccharidosis type II, MPS II) receiving weekly intravenous Enzyme Replacement Therapy (ERT) with recombinant iduronate-2-sulfatase and to assess the social impact and parental opinion of ERT through the use of a parental questionnaire. Nine patients aged 3.5- 14 years have received a mean of 2 (range 0.5-3.5) years of ERT. Treatment was associated with clinical improvements from baseline in hepatosplenomegaly in 6/7 (85%) respiratory manifestations in 4/6 (67%) and a mean reduction in urinary glycosaminoglycan excretion of 62%. Changes noted by parents included increased energy 3/9 (33%) and softening of skin, hair and facial features 8/9 (89%). Parents report that seven hours weekly were spent on hospitalizations for ERT. Parental employment was adversely affected in 8 (89%) families. One day of school/preschool (20%) was lost every week for 8 (89%) children. All parents believed the benefits of ERT out-weigh the difficulties involved. All families would welcome the introduction of home based therapy. In conclusion the social and educational burden of hospital-based ERT on these children and their families is significant. The introduction of home-based therapy is likely to improve overall quality of life for MPSII patients and their families.

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Attitude
  • Child
  • Child, Preschool
  • Enzyme Replacement Therapy*
  • Female
  • Home Care Services*
  • Humans
  • Iduronate Sulfatase / administration & dosage
  • Iduronate Sulfatase / therapeutic use*
  • Ireland
  • Male
  • Mucopolysaccharidosis II / drug therapy*
  • Parents*
  • Surveys and Questionnaires
  • Time Factors

Substances

  • Iduronate Sulfatase