Advanced search
Publication Cover
Pediatric Health Volume 4, 2010 - Issue 1
Journal homepage
28
Views
0
CrossRef citations to date
0
Altmetric
Drug Evaluation

Galsulfase: Enzyme Therapy for Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome)

Gregory M Pastores MD† Departments of Neurology & Pediatrics, New York University School of Medicine, NY, USA Tel.: +1 212 263 8344 Fax: +1 212 263 [email protected]View further author information
Pages 17-24 | Published online: 25 Jan 2010

Bibliography

  • Giugliani R , HarmatzP, WraithJE: Management guidelines for mucopolysaccharidosis VI.Pediatrics120(2), 405–418(2007).
  • Azevedo ACMM , SchwartzIV, KalakunLet al.: Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI.Clin. Genet.66(3), 208–213(2004).
  • Pastores GM , ArnP, BeckMet al.: The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis Type I.Mol. Genet. Metab.91(1), 37–47(2007).
  • Clarke LA : The mucopolysaccharidoses: a success of molecular medicine.Expert Rev. Mol. Med.10, E1 (2008).
  • Piotrowska E , Jakóbkiewicz-BaneckaJ, Tylki-SzymańskaAet al.: Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis.Acta Paediatr.98(4), 743–749(2009).
  • Meikle PJ , HopwoodJJ, ClagueAEet al.: Prevalence of lysosomal storage disorders.JAMA281(3), 249–254(1999).
  • Maroteaux P , LevéqueB, MarieJet al.: Une nouvelle dysostose avec élimination urinaire de chondroitine-sulfat B. La presse médicale, Paris 1949–1851(1963).
  • Fluharty AL , StevensRL, SandersDLet al.: Arylsulfatase B deficiency in Maroteaux–Lamy syndrome cultured fibroblasts.Biochem. Biophys. Res. Commun.59(2), 455–461(1974).
  • Haskins ME , AguirreGD, JezykPFet al.: The pathology of the feline model of mucopolysaccharidosis VI.Am. J. Pathol.101(3), 657–674(1980).
  • Jezyk PF , HaskinsME, PattersonDFet al.: Mucopolysaccharidosis in a cat with arylsulfatase B deficiency: a model of Maroteaux–Lamy syndrome.Science198(4319), 834–836(1977).
  • Mahalingam K , JananiS, PriyaSet al.: Diagnosis of mucopolysaccharidoses: how to avoid false positives and false negatives.Indian J. Pediatr.71(1), 29–32(2004).
  • Dierks T , SchlotawaL, FreseMAet al.: Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann– Pick C1 disease – lysosomal storage disorders caused by defects of non-lysosomal proteins.Biochim. Biophys. Acta.1793(4), 710–725(2009).
  • Herskhovitz E , YoungE, RainerJet al.: Bone marrow transplantation for Maroteaux–Lamy syndrome (MPS VI), long-term follow-up.J. Inherit. Metab. Dis.22(1), 50–62(1999).
  • Wang CC , HwuWL, LinKH: Long-term follow-up of a girl with Maroteaux–Lamy syndrome after bone marrow transplantation.World J. Pediatr.4(2), 152–154(2008).
  • Crawley AC , BrooksDA, MullerVJet al.: Enzyme replacement therapy in a feline model of Maroteaux–Lamy syndrome.J. Clin. Invest.97(8), 1864–1873(1996).
  • Byers S , CrawleyAC, BrumfieldLKet al.: Enzyme replacement therapy in a feline model of MPS VI: modification of enzyme structure and dose frequency.Pediatr. Res.47(6), 743–749(2000).
  • Byers S , NuttallJD, CrawleyACet al.: Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI.Bone21(5), 425–431(1997).
  • Crawley AC , NiedzielskiKH, IsaacEL, DaveyRC, ByersS, HopwoodJJ: Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI.J. Clin. Invest.99(4), 651–662(1997).
  • Auclair D , HopwoodJJ, BrooksDAet al.: Replacement therapy in Mucopolysaccharidosis type VI: advantages of early onset of therapy.Mol. Genet. Metab.78(3), 163–174(2003).
  • Brooks DA , KingBM, CrawleyACet al.: Enzyme replacement therapy in Mucopolysaccharidosis VI: evidence for immune responses and altered efficacy of treatment in animal models.Biochim. Biophys. Acta.1361(2), 203–216(1997).
  • Auclair D , HeinLK, HopwoodJJet al.: Intra-articular enzyme administration for joint disease in feline mucopolysaccharidosis VI: enzyme dose and interval.Pediatr. Res.59(4 Pt 1), 538–543(2006).
  • Auclair D , HopwoodJJ, LemonttJFet al.: Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI.Mol. Genet. Metab.91(4), 352–361(2007).
  • Crawley A , RamsaySL, ByersSet al.: Monitoring dose response of enzyme replacement therapy in feline mucopolysaccharidosis type VI by tandem mass spectrometry.Pediatr. Res.55(4), 585–591(2004).
  • Auclair D , FinnieJ, WhiteJet al.: Repeated intrathecal injections of recombinant human 4-sulphatase remove dural storage in mature mucopolysaccharidosis VI cats primed with a short-course tolerisation regimen.Mol. Genet. Metab. (2009).
  • Harmatz P , WhitleyCB, WaberLet al.: Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux–Lamy syndrome).J. Pediatr.144(5), 574–580(2004).
  • Harmatz P , KetteridgeD, GiuglianiRet 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.Pediatrics115(6) (2005).
  • Harmatz P , GiuglianiR, SchwartzIet 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.148(4), 533–539(2006).
  • Harmatz P , GiuglianiR, SchwartzIVet 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.94(4), 469–475(2008).
  • Metcalf JA , ZhangY, HiltonMJet al.: Mechanism of shortened bones in mucopolysaccharidosis VII.Mol. Genet. Metab.97(3), 202–211(2009).
  • Hein LK , MeiklePJ, DeanCJet al.: Development of an assay for the detection of mucopolysaccharidosis type VI patients using dried blood-spots.Clin. Chim. Acta353(1–2), 67–74(2005).
  • McGill JJ , InwoodAC, ComanDJet al.: Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age – a sibling control study.Clin. Genet. (2009).
  • Kuo YL , CulhaneKM, ThomasonPet al.: Measuring distance walked and step count in children with cerebral palsy: an evaluation of two portable activity monitors.Gait Posture29(2), 304–310(2009).
  • Schlander M , BeckM: Expensive drugs for rare disorders: to treat or not to treat? The case of enzyme replacement therapy for mucopolysaccharidosis VI.Curr. Med. Res. Opin.25(5), 1285–1293(2009).
  • Munoz-Rojas MV , VieiraT, CostaRet al.: Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression.Am. J. Med. Genet. A.146A(19), 2538–2544(2008).
  • Swiedler SJ , BeckM, BajboujMet al.: Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux–Lamy syndrome).Am. J. Med. Genet. A.134A(2), 144–150(2005).
  • Randall DR , ColobongKE, HemmelgarnHet al.: Heparin cofactor II-thrombin complex: a biomarker of MPS disease.Mol. Genet. Metab.94(4), 456–461(2008).
  • Beesley CE , YoungEP, FinneganNet al.: Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry.Mol. Genet. Metab.96(4), 218–224(2009).
  • Bagewadi S , RobertsJ, MercerJet al.: Home treatment with Elaprase and Naglazyme is safe in patients with mucopolysaccharidoses types II and VI, respectively.J. Inherit. Metab. Dis.31(6), 733–737(2008).
  • Tifft C , ProudV, LevyPet al.: Enzyme replacement therapy in the home setting for mucopolysaccharidosis VI: a survey of patient characteristics and physicians’ early findings in the United States.J. Infus. Nurs.32(1), 45–52(2009).
  • Roberts AL , ThomasBJ, WilkinsonASet al.: Inhibition of glycosaminoglycan synthesis using rhodamine B in a mouse model of mucopolysaccharidosis type IIIA.Pediatr. Res.60(3), 309–314(2006).
  • Jakóbkiewicz-Banecka J , PiotrowskaE, NarajczykMet al.: Genistein-mediated inhibition of glycosaminoglycan synthesis, which corrects storage in cells of patients suffering from mucopolysaccharidoses, acts by influencing an epidermal growth factor-dependent pathway.J. Biomed. Sci.16, 26 (2009).
  • Ho TT , MaguireAM, AguirreGDet al.: Phenotypic rescue after adeno-associated virus-mediated delivery of 4-sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis VI.J. Gene. Med.4(6), 613–621(2002).
  • Tessitore A , FaellaA, O‘MalleyTet al.: Biochemical, pathological, and skeletal improvement of mucopolysaccharidosis VI after gene transfer to liver but not to muscle.Mol. Ther.16(1), 30–37(2008).
  • Byers S , RotheM, LalicJet al.: Lentiviral-mediated correction of MPS VI cells and gene transfer to joint tissues.Mol. Genet. Metab.97(2), 102–108(2009).
  • Simonaro CM , D‘AngeloM, HaskinsMEet al.: Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models.Pediatr. Res.57(5 Pt 1), 701–707(2005).
  • Simonaro CM , HaskinsME, SchuchmanEH: Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses.Lab. Invest.81(9), 1319–1328(2001).
  • Tessitore A , PirozziM, AuricchioA. Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI. Pathogenetics2(1), 4 (2009).

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:

Order Reprints Request Corporate Permissions

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:

Request Academic Permissions

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.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.