Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age – a sibling control study

McGill, J. J., Inwood, A. C., Coman, D. J., Lipke, M. L., de Lore, D, Swiedler, S. J. and Hopwood, J. J. (2010) Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age – a sibling control study. Clinical Genetics, 77 5: 492-498. doi:10.1111/j.1399-0004.2009.01324.x

Author McGill, J. J.
Inwood, A. C.
Coman, D. J.
Lipke, M. L.
de Lore, D
Swiedler, S. J.
Hopwood, J. J.
Title Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age – a sibling control study
Journal name Clinical Genetics   Check publisher's open access policy
ISSN 0009-9163
Publication date 2010-05
Year available 2009
Sub-type Article (original research)
DOI 10.1111/j.1399-0004.2009.01324.x
Volume 77
Issue 5
Start page 492
End page 498
Total pages 7
Editor Michael R. Hayden
Place of publication Malden, MA, United States
Publisher Wiley-Blackwell Publishing
Collection year 2010
Language eng
Subject 920199 Clinical Health (Organs, Diseases and Abnormal Conditions) not elsewhere classified
110107 Metabolic Medicine
Abstract Mucopolysaccharidosis type VI (MPS VI) is a progressive, multisystem disorder caused by a deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulphatase (ASB). Enzyme replacement therapy (ERT) has been shown to clinically benefit affected individuals greater than 6 years of age. This case control study of affected siblings assessed the safety, efficacy and benefits of ERT in children less than 5 years of age. Siblings, aged 8 weeks and 3.6 years, were treated weekly with 1 mg/kg recombinant human N-acetylgalactosamine-4-sulphatase (rhASB) with an end-point of 3.6 years. Clinical and biochemical parameters were monitored to assess the benefits of ERT. The treatment was well tolerated by both siblings. In the younger sibling, ERT was associated with the absence of the development of scoliosis and preserved joint movement, cardiac valves and facial morphology. The older sibling had a marked improvement in joint mobility and cardiac valve pathology and scoliosis slowed or stabilized. Corneal clouding and progressive skeletal changes were observed despite treatment. This study demonstrated a clear benefit of early initiation of ERT to slow or prevent the development of significant pathological changes of MPS VI. These results indicate that the earlier ERT is started, the greater the response.
Keyword Dose
Early intervention
Enzyme replacement therapy
Neonatal period
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status Non-UQ
Additional Notes Short report/ Article first published online: 23 November 2009

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2010 Higher Education Research Data Collection
School of Medicine Publications
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Created: Tue, 30 Mar 2010, 11:42:57 EST by Melanie Thomas on behalf of Paediatrics & Child Health - RBWH