1,618
Views
4
CrossRef citations to date
0
Altmetric
Drug Evaluations

Evaluation of galsulfase for the treatment of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

, MD PhD & , MD PhD (Professor)

Bibliography

  • Maroteaux P, Leveque B, Marie J, Lamy M. A new dysostosis with urinary elimination of chondroitin sulfate B. Presse Med 1963;71:1849-52
  • Litjens T, Baker EG, Beckmann KR, et al. Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase. Hum Genet 1989;82:67-8
  • Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Mucopolysaccharidosis VI. Orphanet J Rare Dis 2010;5:5
  • Harmatz P, Whitley CB, Waber L, et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr 2004;144:574-80
  • McGill JJ, Inwood AC, Coman DJ, et al. Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age - a sibling control study. Clin Genet 2009;77(5):492-8
  • Furujo M, Kubo T, Kosuga M, Okuyama T. Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. Mol Genet Metab 2011;104(4):597-602
  • Horovitz DDG, Magalhaes TSPC, Acosta A, et al. Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI. Mol Genet Metab 2013;109(1):62-9
  • Peters C, Balthazor M, Shapiro E, et al. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood 1996;87:4894-902
  • Wang C, Hwu W, Lin K. Long-term follow-up of a girl with Maroteaux-Lamy syndrome after bone marrow transplantation. World J Pediatr 2008;4:152-4
  • Herskhovitz E, Young E, Rainer J, et al. Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): long-term follow-up. J Inherit Metab Dis 1999;22:50-6
  • Turbeville S, Nicely H, Rizzo JD, et al. Clinical outcomes following hematopoietic stem cell transplantation for the treatment ofmucopolysaccharidosis VI. Mol Genet Metab 2011;102(2):111-15
  • Friso A, Tomanin R, Salvalaio M, Scarpa M. Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II. Br J Pharmacol 2010;159:1082-91
  • Delgadillo V, O'Callaghan M del M, Artuch R. Genistein supplementation in patients affected by Sanfilippo disease. J Inherit Metab Dis 2011;34:1039-44
  • de Ruijter J, Valstar MJ, Narajczyk M, et al. Genistein in Sanfilippo disease: a randomized controlled crossover trial. Ann Neurol 2012;71:110-20
  • Marucha J, Tylki-Szymanska A, Jakobkiewicz-Banecka J, et al. Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT). Am J Med Genet A 2011;155A:2257-62
  • Hopwood J, Bate G, Kirkpatrick P. Galsulfase. Nat Rev Drug Discov 2006;5:101-2
  • Available from: http://www.accessdata.fda.gov/drugsatfda_docs/label/2013/125117s111lbl.pdf
  • Naglazyme [BioMarin]. Naglazyme prescribing information. 2005. Ref Type: Pamphlet. Available from: http://www.naglazyme.com/hcp/pdfs/DosageandAdminGuide.pdf
  • Auclair D, Hopwood JJ, Brooks DA, et al. Replacement therapy in Mucopolysaccharidosis type VI: advantages of early onset of therapy. Mol Genet Metab 2003;78:163-74
  • Harmatz P, Kramer WG, Hopwood JJ, et al. Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study. Acta Paediatr Suppl 2005;94(447):61-8
  • Harmatz P, Ketteridge D, Giugliani R, et al. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics 2005;115(6):e681-9
  • Harmatz P, Giugliani R, Schwartz I, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J Pediatr 2006;148:533-9
  • Harmatz P, Giugliani R, Schwartz IV, et al. Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol Genet Metab 2008;94:469-75
  • Hendriksz CJ, Giugliani R, Harmatz P, et al. Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP). J Inherit Metab Dis 2013;36(2):373-84
  • Harmatz PR, Garcia P, Guffon N, et al. Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI. J Inherit Metab Dis 2013. [Epub ahead of print]
  • Naglazyme, INN-galsulfase, European Medicines Agency. Available from: http://www.ema.europa.eu/ema/
  • Giugliani R, Harmatz P, Wraith JE. Management guidelines for mucopolysaccharidosis VI. Pediatrics 2007;120(2):405-18
  • Doğan M, Cesur Y, Peker E, et al. Thrombocytopenia associated with galsulfase treatment. Hum Exp Toxicol 2011;30(7):768-71
  • White JT, Argento Martell L, Prince WS, et al. Comparison of neutralizing antibody assays for receptor binding and enzyme activity of the enzyme replacement therapeutic Naglazyme (galsulfase). AAPS J 2008;10(3):439-49
  • White JT, Martell LA, Van Tuyl A, et al. Development, validation, and clinical implementation of an assay to measure total antibody response to naglazyme (galsulfase). AAPS J 2008;10(2):363-72
  • Brands MM, Hoogeveen-Westerveld M, Kroos MA, et al. Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. Orphanet J Rare Dis 2013;8(1):51
  • Giugliani R, Federhen A, Rojas MV, et al. Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment. Genet Mol Biol 2010;33(4):589-604
  • Waith JE, Vellodi A, Cleary MA, et al. Guidelines for the investigation and management of mucopolysaccharidosis type VI. Available from: http://webarchive.nationalarchives.gov.uk/20130107105354/http://www.dh.gov.uk/prod_consum_dh/groups/dh_digitalassets/@dh/@en/documents/digitalasset/dh_4131929.pdf
  • Australian Government Department of Health and Aging. Guidelines for the treatment of Mucopolysaccharidosis Type VI (MPS VI) disease through the Life Saving Drugs Program. Available from: http://www.health.gov.au/internet/main/publishing.nsf/Content/lsdp-info/$File/mps-vi-guidelines-may-2013.pdf
  • Hwu WL, Okuyama T, But WM, et al. Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region. Mol Genet Metab 2012;107(1-2):136-44
  • El Dib RP, Pastores GM. A systematic review of new advances in the management of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): focus on galsulfase. Biologics 2009;3:459-68
  • Cookson R, McCabe C, Tsuchiya A. Public healthcare resource allocation and the Rule of Rescue. J Med Ethics 2008;34(7):540-4
  • Tambuyzer E. Rare diseases, orphan drugs and their regulation: questions and misconceptions. Nat Rev Drug Discov 2010;9(12):921-9
  • Harmatz P, Yu ZF, Giugliani R, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Inherit Metab Dis 2010;33(1):51-60
  • Decker C, Yu ZF, Giugliani R, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med 2010;3(2):89-100
  • Braunlin E, Rosenfeld H, Kampmann C, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. J Inherit Metab Dis 2013;36(2):385-94
  • Crawley AC, Niedzielski KH, Isaac EL, et al. Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI. J Clin Invest 1997;99:651-62
  • Wang D, Wood T, Sadilek M, et al. Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease). Clin Chem 2007;53:137-40
  • Gelb MH, Turecek F, Scott CR, Chamoles NA. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis 2006;29:397-404
  • Matern D. Newborn screening for lysosomal storage disorders. Acta Paediatr Suppl 2008;97:33-7
  • Dickson P, McEntee M, Vogler C, et al. Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid. Mol Genet Metab 2007;91:61-8
  • Munoz-Rojas MV, Horovitz DD, Jardim LB, et al. Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis. Mol Genet Metab 2009;99(4):346-50
  • Auclair D, Hein LK, Hopwood JJ, Byers S. Intra-articular enzyme administration for joint disease in feline mucopolysaccharidosis VI: enzyme dose and interval. Pediatr Res 2006;59:538-43
  • Wang D, Eadala B, Sadilek M, et al. Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns. Clin Chem 2005;51:898-900
  • Auray-Blais C, Bhérer P, Gagnon R, et al. Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI. Mol Genet Metab 2011;102:49-56
  • Uribe A, Giugliani R. Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects. JIMD Rep 2013;11:107-16
  • Giugliani R. Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America. J Inherit Metab Dis 2012;35(5):871-7
  • Auclair D, Hopwood JJ, Lemontt JF, et al. Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI. Mol Genet Metab 2007;91:352-61
  • Giugliani R, Carvalho CG, Herber S, de Camargo Pinto LL. Recent Advances in Treatment Approaches of Mucopolysaccharidosis VI. Curr Pharm Biotechnol 2011;12(6):956-62
  • Azevedo AC, Schwartz IV, Kalakun L, et al. Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI. Clin Genet 2004;66(3):208-13
  • Guarany NR, Schwartz IV, Guarany FC, Giugliani R. Functional capacity evaluation of patients with mucopolysaccharidosis. J Pediatr Rehabil Med 2012;5(1):37-46
  • Giugliani R. Mucopolysacccharidoses: from understanding to treatment, a century of discoveries. Genet Mol Biol 2012;35(4 (Suppl)):924-31

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.