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Type: Journal article
Title: Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age - a sibling control study
Author: McGill, J.
Inwood, A.
Coman, D.
Lipke, M.
de Lore, D.
Swiedler, S.
Hopwood, J.
Citation: Clinical Genetics: an international journal of genetics and molecular medicine, 2010; 77(5):492-498
Publisher: Blackwell Munksgaard
Issue Date: 2010
ISSN: 0009-9163
Statement of
JJ McGill, AC Inwood, DJ Coman, ML Lipke, D de Lore, SJ Swiedler and JJ Hopwood
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.
Keywords: dose
early intervention
enzyme replacement therapy
neonatal period
Rights: © 2009 John Wiley & Sons A/S
DOI: 10.1111/j.1399-0004.2009.01324.x
Appears in Collections:Aurora harvest
Paediatrics publications

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