The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

Show simple item record Harmatz, P. Lampe, C. McGill, J.J. Parini, R. Leao-Teles, E. Valayannopoulos, V. Cole, T.J. Matousek, R. Graham, S. Guffon, N. Quartel, A. 2017-11-24T07:37:40Z 2017-11-24T07:37:40Z 2017-09
dc.description.abstract Mucopolysaccharidosis (MPS) VI is an autosomal recessive lysosomal storage disorder arising from deficient activity of N-acetylgalactosamine-4-sulfatase (arylsulfatase B) and subsequent intracellular accumulation of the glycosaminoglycans (GAGs) dermatan sulfate and chondroitin-4-sulfate. Manifestations are multi-systemic and include skeletal abnormalities such as dysostosis multiplex and short stature. Reference height-for-age growth charts for treatment-naïve MPS VI patients have been published for both the slowly and rapidly progressing populations. Categorization of disease progression for these charts was based on urinary GAG (uGAG) level; high (N200 μg/mg creatinine) levels identified subjects as rapidly progressing. Height data for 141 patients who began galsulfase treatment by the age of 18 years were collected and stratified by baseline uGAG level and age at ERT initiation in 3-year increments. The referenceMPS VI growth charts were used to calculate change in Z-score from pre-treatment baseline to last follow-up. Among patientswith high baseline uGAG levels, galsulfase ERTwas associatedwith an increase in Z-score for those beginning treatment at 0–3, N3–6, N6– 9, N9–12, and N12–15 years of age (p b 0.05). Increases in Z-score were not detected for patientswho began treatment between 15 and 18 years of age, nor for patients with low (≤200 μg/mg creatinine) baseline uGAG levels, regardless of age at treatment initiation. The largest positive deviation from untreated reference populations was seen in the high uGAG excretion groups who began treatment by 6 years of age, suggesting an age- and severity- dependent impact of galsulfase ERT on growth. en_ZA
dc.description.department Immunology en_ZA
dc.description.librarian am2017 en_ZA
dc.description.sponsorship BioMarin Pharmaceutical Inc. and was supported in part by UK MRC through grant number MR/M012069/1 (Dr. Cole) and the National Center for Advancing Translational Sciences, National Institutes of Health (NIH), through UCSF-CTSI grant number UL1 TR000004 (Dr. Harmatz). Remove selected en_ZA
dc.description.uri en_ZA
dc.identifier.citation Harmatz, P. ... et al. 2017, 'The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)', Molecular Genetics and Metabolism, vol. 122, no. 1-2, pp. 107-112. en_ZA
dc.identifier.issn 1096-7192 (print)
dc.identifier.issn 1096-7206 (online)
dc.identifier.other 10.1016/j.ymgme.2017.03.008
dc.language.iso en en_ZA
dc.publisher Elsevier en_ZA
dc.rights © 2017 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license ( en_ZA
dc.subject Maroteaux-Lamy syndrome en_ZA
dc.subject Lysosomal storage disorder en_ZA
dc.subject Growth en_ZA
dc.subject Height en_ZA
dc.subject Enzyme replacement therapy en_ZA
dc.subject Galsulfase en_ZA
dc.subject Age en_ZA
dc.subject Diagnosis en_ZA
dc.subject Mucopolysaccharidosis (MPS) VI en_ZA
dc.subject Glycosaminoglycans (GAGs) en_ZA
dc.subject Disease progression en_ZA
dc.title The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) en_ZA
dc.type Article en_ZA

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