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Publications

The following is a select list of publications associated with BioMarin’s marketed products and investigational product candidates. These publications can be accessed online at PUBMED.

On the Market

Investigational Product Candidates

Aldurazyme® (laronidase) for MPS I

Giugliani R, et al. A dose-optimization trial of laronidase Aldurazyme in patients with mucopolysaccharidosis I. Mol Genet Metab, 2008 Nov 25, Pages e1-7

Pastores GM. Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I. Expert Opin Biol Ther, 2008 Jul, Vol.8, Pages 1003-9

Cáceres-Marzal C, et al. Decreased corneal opacity and improved vision in a patient with mucopolysaccharidosis I (Hurler-Scheie) treated with enzyme replacement therapy (laronidase, Aldurazyme). Am J Med Genet A, 2008 Jul 1, Vol.146A, Pages 1768-70

Hirth A, et al. Successful treatment of severe heart failure in an infant with Hurler syndrome. J Inherit Metab Dis, 2007 Oct, Vol.30, Pages 820

Pitz S, et al. Ocular changes in patients mucopolysaccharidosis I receiving enzyme replacement therapy: a 4-year experience. Arch Ophthalmol, 2007 Oct, Vol.125, Pages 1353-6

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Wraith JE, et al. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). Pediatrics, 2007 Jul, Vol.120, Pages e37-46

Anbu AT, et al. Effect of discontinuing of laronidase in a patient with mucopolysaccharidosis type I. J Inherit Metab Dis, 2006 Feb, Vol.29, Pages 230-1

El Dib RP, Pastores GM. Laronidase for treating mucopolysaccharidosis type I. Genet Mol Res, 2007 Sep 30, Vol.6, Pages 667-74

Tokic V, et al. Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I. Eur J Pediatr, 2007 Jul, Vol.166, Pages 727-32

Sifuentes M, et al. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab, 2007 Feb, Vol.90, Pages 171-80

Kloska A, et al. Changes in hair morphology of mucopolysaccharidosis I patients treated with recombinant human alpha-L-iduronidase (laronidase, Aldurazyme). Am J Med Genet A, 2005 Dec 15, Vol.139, Pages 199-203

Belichenko PV, Dickson PI, Passage M, et al. Penetration, diffusion, and uptake of recombinant human alpha-L-iduronidase after intraventricular injection into the rat brain. Mol Genet Metab. 2005 [Epub ahead of print].

Wraith JE. The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin Pharmacother. 2005; 6(3): 489-506.

Morrow T. Laronidase opens door to treat other rare disorders. Manag Care. 2004; 13(6): 52-53.

Kakkis E, McEntee M, Vogler C, et al. Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I. Mol Genet Metab. 2004; 83(1-2): 163-174.

Yogalingam G, Guo XH, Muller VJ, et al. Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. Hum Mutat. 2004; 24(3): 199-207.

Matheus MG, Castillo M, Smith JK, Armao D, Towle D, Muenzer J. Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation. Neuroradiology. 2004; 46(8): 666-672.

Muenzer J, Fisher A. Advances in the treatment of mucopolysaccharidosis type I. N Engl J Med. 2004; 350(19): 1932-1934.

Wraith JE, Clarke LA, Beck M, et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). The Journal of Pediatrics. 2004; 144(5): 581-8.

Kakkis ED, Muenzer J, Tiller GE, et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med. 2001; 344(3): 182-8.

Kakkis ED, Schuchman E, He X, et al. Enzyme replacement therapy in feline mucopolysaccharidosis I. Molecular Genetics and Metabolism. 2001; 72(3): 199-208.

Zhao KW, Faull KF, Kakkis ED, Neufeld EF. Carbohydrate structures of recombinant human alpha-L-iduronidase secreted by Chinese hamster ovary cells. The Journal of Biological Chemistry. 1997; 272(36): 22758-65.

Kakkis ED, McEntee MF, Schmidtchen A, et al. Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochemical and Molecular Medicine. 1996; 58(2): 156-67.

Kakkis ED, Matynia A, Jonas AJ, Neufeld EF. Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells. Protein Expression and Purification. 1994; 5(3): 225-32.

Shull RM, Kakkis ED, McEntee MF, Kania SA, Jonas AJ, Neufeld EF. Enzyme replacement in a canine model of Hurler syndrome. Proceedings of the National Academy of Sciences of the United States of America. 1994; 91(26): 12937-41.

 

Naglazyme® (galsulfase) for MPS VI    

Bagewadi S, et al. Home treatment with Elaprase and Naglazyme is safe in patients with mucopolysaccharidoses types II and VI, respectively. J Inherit Metab Dis, 2008 Dec, Vol.31, Pages 733-7

White JT, et al. Comparison of neutralizing antibody assays for receptor binding and enzyme activity of the enzyme replacement therapeutic Naglazyme (galsulfase). AAPS J, 2008 Sep, Vol.10, Pages 439-49

Koseoglu ST, et al. Reversed papilledema in an MPS VI patient with galsulfase Naglazyme therapy. Int Ophthalmol, 2008 Apr 17

Kim KH, et al. Successful management of difficult infusion-associated reactions in a young patient with mucopolysaccharidosis type VI receiving recombinant human arylsulfatase B (galsulfase [Naglazyme]). Pediatrics, 2008 Mar, Vol.121, Pages e714-7

Hopwood JJ, et al. Galsulfase. Nat Rev Drug Discov, 2006 Feb, Vol.5, Pages 101-2

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Galsulfase: arylsulfatase B, BM 102, recombinant human arylsulfatase B, recombinant human N-acetylgalactosamine-4-sulfatase, rhASB. Drugs R D, 2005, Vol.6, Pages 312-5

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 Paediatrica. 2005, 94(Suppl 447): 61-68.

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; 15(6): e681-9.

Swiedler SJ, Beck M, Bajbouj M, et 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. 2005; 134(2): 144-50.

Karageorgos L, Harmatz P, Simon J, et al. Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. Hum Mutat. 2004; 23(3): 229-33.

Auclair D, Hopwood JJ, Brooks DA, Lemontt JF, Crawley AC. Replacement therapy in Mucopolysaccharidosis type VI: advantages of early onset of therapy. Mol Genet Metab. 2003; 78(3): 163-74.

Litjens T, Hopwood JJ. Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. Hum Mutat. 2001; 18(4): 282-95.

Harmatz P, Whitley CB, Waber L, et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). The Journal of Pediatrics. 2004; 144(5): 574-80.

Byers S, Crawley AC, Brumfield LK, Nuttall JD, Hopwood JJ. Enzyme replacement therapy in a feline model of MPS VI: modification of enzyme structure and dose frequency. Pediatric Research. 2000; 47(6): 743-9.

Byers S, Nuttall JD, Crawley AC, Hopwood JJ, Smith K, Fazzalari NL. Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI. Bone. 1997; 21(5): 425-31.

Brooks DA, King BM, Crawley AC, Byers S, Hopwood JJ. Enzyme replacement therapy in Mucopolysaccharidosis VI: evidence for immune responses and altered efficacy of treatment in animal models. Biochimica et Biophysica Acta. 1997; 1361(2): 203-16.

Crawley AC, Niedzielski KH, Isaac EL, Davey RC, Byers S, Hopwood JJ. Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI. The Journal of Clinical Investigation. 1997; 99(4): 651-62.

Crawley AC, Brooks DA, Muller VJ, et al. Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome. The Journal of Clinical Investigation. 1996; 97(8): 1864-73.

 

KUVAN® (sapropterin dihydrochloride) Tablets (formerly known as Phenoptin™) for PKU

(Important Note: The following publications include studies that evaluated various formulations of tetrahydrobiopterin (BH4). These studies did not strictly use the formulation of tetrahydrobiopterin (6R-BH4) that is currently being evaluted in BioMarin's Phenoptin program.)

Koch R. Maternal phenylketonuria and tetrahydrobiopterin. Pediatrics, 2008 Dec; 122(6):1367-8.

Feillet F, et al. Pharmacokinetics of Sapropterin in Patients with Phenylketonuria. Clin Pharmacokinet, 2008; 47(12):817-825.

Lee P, et al. Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. Am J Med Genet A, 2008 Nov 15, Vol.146A, Pages 2851-9

Morrow T. Recently-approved sapropterin reduces phenylalanine levels. Manag Care, 2008 Mar, Vol.17, Pages 57-8

Sapropterin (Kuvan) for phenylketonuria. Med Lett Drugs Ther, 2008 Jun 2, Vol.50, Pages 43-4

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Blau N. Defining tetrahydrobiopterin (BH4)-responsiveness in PKU. J Inherit Metab Dis, 2008 Feb, Vol.31, Pages 2-3

Michals-Matalon K. Sapropterin dihydrochloride, 6-R-L-erythro-5,6,7,8-tetrahydrobiopterin, in the treatment of phenylketonuria. Expert Opin Investig Drugs, 2008 Feb, Vol.17, Pages 245-51

Langenbeck U. Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias. J Inherit Metab Dis, 2008 Feb, Vol.31, Pages 67-72

Doggrell SA. Is sapropterin treatment suitable for all subjects with phenylketonuria? Expert Opin Pharmacother, 2008 Jan, Vol.9, Pages 145-7

Levy H, et al. Recommendations for evaluation of responsiveness to tetrahydrobiopterin BH4 in phenylketonuria and its use in treatment. Mol Genet Metab, 2007 Dec, Vol.92, Pages 287-91

Levy HL, et al. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study. Lancet, 2007 Aug 11, Vol.370, Pages 504-10

Burnett JR. Sapropterin dihydrochloride (Kuvan/phenoptin), an orally active synthetic form of BH4 for the treatment of phenylketonuria. IDrugs, 2007 Nov, Vol.10, Pages 805-13

Burton BK, et al. The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study. J Inherit Metab Dis, 2007 Oct, Vol.30, Pages 700-7

Zhang ZX, Ye J, Qiu WJ, Han LS, Gu XF. [Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test] Zhonghua Er Ke Za Zhi. 2005 May; 43(5): 335-339. Chinese

Perez-Duenas B, Vilaseca MA, Mas A, et al. Tetrahydrobiopterin responsiveness in patients with phenylketonuria. Clin Biochem. 2004; 7(12): 1083-1090.

Pey AL, Perez B, Desviat LR, et al. Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations. Hum Mutat. 2004; 24(5): 388-399.

Steinfeld R, Kohlschutter A, Ullrich K, Lukacs Z. Efficiency of long-term tetrahydrobiopterin monotherapy in phenylketonuria. J Inherit Metab Dis. 2004; 27(4): 449-53.

Matalon R, Koch R, Michals-Matalon K, et al. Biopterin responsive phenylalanine hydroxylase deficiency. Genetics in Medicine. 2004; 6(1): 27-32.

Shintaku H, Kure S, Ohura T, et al. Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene. Pediatric Research. 2004; 55(3): 425-30.

Bernegger C, Blau N. High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002. Molecular Genetics and Metabolism. 2002; 77(4): 304-13.


Muntau AC, Roschinger W, Habich M, e t al. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. The New England Journal of Medicine. 2002; 347(26): 2122-32.

 

PEG-PAL (formerly Pheynylase™ [phenylalanine ammonia lyase]) for PKU

Gámez A, et al. Structure-based epitope and PEGylation sites mapping of phenylalanine ammonia-lyase for enzyme substitution treatment of phenylketonuria. Mol Genet Metab, 2007 Aug, Vol.91, Pages 325-34

Sarkissian CN, Gámez A. Phenylalanine ammonia lyase, enzyme substitution therapy for phenylketonuria, where are we now? Mol Genet Metab, 2005 Dec, Vol.86 Suppl 1, Pages S22-6

Ikeda K, et al. Phenylalanine ammonia-lyase modified with polyethylene glycol: potential therapeutic agent for phenylketonuria. Amino Acids, 2005 Nov, Vol.29, Pages 283-7

Gámez A, et al.Development of pegylated forms of recombinant Rhodosporidium toruloides phenylalanine ammonia-lyase for the treatment of classical phenylketonuria. Mol Ther, 2005 Jun, Vol.11, Pages 986-9

Kim W, et al. Trends in enzyme therapy for phenylketonuria. Mol Ther, 2004 Aug, Vol.10, Pages 220-4

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Blau N, Scriver CR. New approaches to treat PKU: how far are we? Mol Genet Metab, 2004 Jan, Vol.81, Pages 1-2

Sarkissian CN, et al. A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proc Natl Acad Sci U S A, 1999 Mar 2, Vol.96, Pages 2339-44

Hoskins JA, et al. Enzymatic control of phenylalanine intake in phenylketonuria. Lancet, 1980 Feb 23, Vol.1, Pages 392-4

Ritter H, Schulz GE. Structural basis for the entrance into the phenylpropanoid metabolism catalyzed by phenylalanine ammonia-lyase. Plant Cell. 2004; 16(12): 3426-3436.

Sarkissian CN, Shao Z, Blain F, et al. A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. Proceedings of the National Academy of Sciences of the United States of America. 1999; 96(5): 2339-44.