Parental experience of enzyme replacement therapy for Hunter syndrome

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 paren...

Full description

Saved in:
Bibliographic Details
Published in:Irish medical journal 2013-04, Vol.106 (4), p.120-122
Main Authors: Buraczewska, M, O'Leary, D, Walsh, O, Monavari, A, Crushell, E
Format: Article
Language:English
Subjects:
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
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0332-3102