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Editorial

Alternative therapies to address the unmet medical needs of patients with phenylketonuria

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Bibliography

  • Scriver CR. The PAH gene, phenylketonuria, and a paradigm shift. Hum Mutat 2007;28:831-45
  • Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet 2010;376:1417-27
  • Feillet F, van Spronsen FJ, MacDonald A, et al. Challenges and pitfalls in the management of phenylketonuria. Pediatrics 2010;126:333-41
  • van Spronsen FJ, de Groot MJ, Hoeksma M, et al. Large neutral amino acids in the treatment of PKU: from theory to practice. J Inherit Metab Dis 2010;33:671-6
  • Santos-Sierra S, Kirchmair J, Perna AM, et al. Novel pharmacological chaperones that correct phenylketonuria in mice. Hum Mol Genet 2012;21:1877-87
  • Blau N. Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency. Expert Rev Endocrinol Metabol 2010;5:483-94
  • Heintz C, Cotton RG, Blau N. Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria. Hum Mutat 2013;34:927-36
  • Blau N, Shen N, Carducci C. Molecular genetics and diagnosis of phenylketonuria: state of the art. Expert Rev Mol Diagn 2014;14:655-71
  • Wettstein S, Underhaug J, Perez B, et al. Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria. Eur J Hum Genet 2014; Epub ahead of print
  • Pey AL, Stricher F, Serrano L, et al. Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases. Am J Hum Genet 2007;81:1006-24
  • Staudigl M, Gersting SW, Danecka MK, et al. The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response. Hum Mol Genet 2011;20:2628-41
  • De Maria R, Campolo J, Frontali M, et al. Effects of sapropterin on endothelium-dependent vasodilation in patients with CADASIL: a randomized controlled trial. Stroke 2014;45:2959-66
  • Keil S, Anjema K, van Spronsen FJ, et al. Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. Pediatrics 2013;131:e1881-8
  • Shintaku H, Ohura T. Sapropterin is safe and effective in patients less than 4-years-old with BH-responsive phenylalanine hydroxylase deficiency. J Pediatr 2014;165:1241-4
  • Longo N, Siriwardena K, Feigenbaum A, et al. Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy. Genet Med 2014; Epub ahead of print
  • Hoskins JA, Jack G, Wade HE, et al. Enzymatic control of phenylalanine intake in phenylketonuria. Lancet 1980;1:392-4
  • Sarkissian CN, Gamez A, Wang L, et al. Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria. Proc Natl Acad Sci USA 2008;105:20894-9
  • Sarkissian CN, Kang TS, Gamez A, et al. Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria. Mol Genet Metab 2011;104:249-54
  • Longo N, Harding CO, Burton BK, et al. Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial. Lancet 2014;384:37-44
  • Yew NS, Dufour E, Przybylska M, et al. Erythrocytes encapsulated with phenylalanine hydroxylase exhibit improved pharmacokinetics and lowered plasma phenylalanine levels in normal mice. Mol Genet Metab 2013;109:339-44
  • Rossi L, Pierige F, Carducci C, et al. Erythrocyte-mediated delivery of phenylalanine ammonia lyase for the treatment of phenylketonuria in BTBR-Pah mice. J Control Release 2014;194C:37-44
  • Levy HL, Milanowski A, Chakrapani A, 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;370:504-10
  • Burton BK, Grange DK, Milanowski A, 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;30:700-7
  • Wasserstein M, Burton B, Cederbaum S. Results of a Phase II, multicenter, open-label study of sapropterin dihydrochloride in subjects with hyperphenylalaninemia related to primary BH4 deficiency. Presented at the Annual Meeting of the American Society for Human Genetics (ASHG), 2008; 11–15 November 2008; Philadelphia, PA, USA
  • Lee P, Treacy EP, Crombez E, et al. Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. Am J Med Genet A 2008;146A:2851-9
  • Trefz FK, Burton BK, Longo N, et al. Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J Pediatr 2009;154:700-7
  • Burton BK, Nowacka M, Hennermann JB, et al. Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study. Mol Genet Metab 2011;103:315-22
  • Fernhoff PM, Burton B, Nowacka M, et al. PKU 008: a long-term, open-label study of sapropterin dihydrochloride (Kuvan®) in PKU subjects. Presented at the American College of Medical Genetics Annual Meeting; 25–29 March 2009; FL USA
  • Douglas TD, Ramakrishnan U, Kable JA, et al. Longitudinal quality of life analysis in a phenylketonuria cohort provided sapropterin dihydrochloride. Health Qual Life Outcomes 2013;11:218
  • Grange DK, Hillman RE, Burton BK, et al. Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry. Mol Genet Metab 2014;112:9-16
  • Available from: www.Clinicaltrials.gov [Accessed 6 December 2014]
  • BioMarin. Press Release 26 Sep 2012 Available from: http://investors.bmrn.com/releasedetail.cfm?ReleaseID=716661
  • BioMarin. Press Release 5 June 2013 Available from: http://investors.bmrn.com/releasedetail.cfm?ReleaseID=769256

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