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Orphan Drug Designation

Fresh from the designation pipeline: orphan drugs recently designated in the European Union (August–October 2014)

, MD, PhD (Lecturer)

Bibliography

  • Jobe AH, Bancalari E. Bronchopulmonary dysplasia. Am J Respir Crit Care Med 2001;163(7):1723-9
  • Uberos J, Miras-Baldo M, Jerez-Calero A, Narbona-Lopez E. Effectiveness of vitamin a in the prevention of complications of prematurity. Pediatr Neonatol 2014;55(5):358-62
  • Agency EM. Public summary of opinion on orphan designation Retinol for the prevention of bronchopulmonary dysplasia. Public summary of opinion on orphan designation Retinol for the prevention of bronchopulmonary dysplasia. 2014
  • Cnossen WR, Drenth JP. Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. Orphanet J Rare Dis 2014;9:69
  • Gevers TJ, Hol JC, Monshouwer R, et al. Effect of lanreotide on polycystic liver and kidneys in autosomal dominant polycystic kidney disease: an observational trial. Liver Int 2014. [Epub ahead of print]
  • Agency EM. Public summary of opinion on orphan designation Sodium ascorbate and menadione sodium bisulfite for the treatment of autosomal dominant polycystic liver disease. Public summary of opinion on orphan designation Sodium ascorbate and menadione sodium bisulfite for the treatment of autosomal dominant polycystic liver disease. 2014
  • De Koning HD, Bodar EJ, Van Der Meer JW, Simon A; Schnitzler Syndrome Study G. Schnitzler syndrome: beyond the case reports: review and follow-up of 94 patients with an emphasis on prognosis and treatment. Semin Arthritis Rheum 2007;37(3):137-48
  • Tinazzi E, Puccetti A, Patuzzo G, et al. Schnitzler syndrome, an autoimmune-autoinflammatory syndrome: report of two new cases and review of the literature. Autoimmun Rev 2011;10(7):404-9
  • Neel A, Henry B, Barbarot S, et al. Long-term effectiveness and safety of interleukin-1 receptor antagonist (anakinra) in Schnitzler’s syndrome: a French multicenter study. Autoimmun Rev 2014;13(10):1035-41
  • Agency EM. Public summary of opinion on orphan designation Gevokizumab for the treatment of Schnitzler syndrome. Public summary of opinion on orphan designation Gevokizumab for the treatment of Schnitzler syndrome. 2014
  • Brooks-Wilson A, Marcil M, Clee SM, et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet 1999;22(4):336-45
  • Tardy C, Goffinet M, Boubekeur N, et al. CER-001, a HDL-mimetic, stimulates the reverse lipid transport and atherosclerosis regression in high cholesterol diet-fed LDL-receptor deficient mice. Atherosclerosis 2014;232(1):110-18
  • Agency EM. Public summary of opinion on orphan designation: recombinant human apolipoprotein A-I in a complex with phospholipids for the treatment of ATP-binding cassette transporter A1 deficiency. Public summary of opinion on orphan designation: recombinant human apolipoprotein A-I in a complex with phospholipids for the treatment of ATP-binding cassette transporter A1 deficiency. 2014
  • Agency EM. Public summary of opinion on orphan designation:recombinant human apolipoprotein A-I in a complex with phospholipids for the treatment of apolipoprotein A-I deficiency. Public summary of opinion on orphan designation:recombinant human apolipoprotein A-I in a complex with phospholipids for the treatment of apolipoprotein A-I deficiency. 2014
  • Hirano M, Marti R, Spinazzola A, et al. Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder. Nucleosides Nucleotides Nucleic Acids 2004;23(8-9):1217-25
  • Torres-Torronteras J, Viscomi C, Cabrera-Perez R, et al. Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE. Mol Ther 2014;22(5):901-7
  • Agency EM. Public summary of opinion on orphan designation Vector based on an adeno-associated virus serotype 2 backbone, pseudo-serotyped with a type 8 capsid, which carries the coding sequence of the human TYMP gene under the control of the human thyroxine binding globulin promoter for the treatment of mitochondrial neurogastrointestinal encephalomyopathy. Public summary of opinion on orphan designation Vector based on an adeno-associated virus serotype 2 backbone, pseudo-serotyped with a type 8 capsid, which carries the coding sequence of the human TYMP gene under the control of the human thyroxine binding globulin promoter for the treatment of mitochondrial neurogastrointestinal encephalomyopathy. 2014
  • Zanella A, Fermo E, Bianchi P, Valentini G. Red cell pyruvate kinase deficiency: molecular and clinical aspects. Br J Haematol 2005;130(1):11-25
  • Meza NW, Alonso-Ferrero ME, Navarro S, et al. Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme. Mol Ther 2009;17(12):2000-9
  • Agency EM. Public summary of opinion on orphan designation.Lentiviral vector containing the human liver and erythroid pyruvate kinase (PKLR) gene for the treatment of pyruvate kinase deficiency. Public summary of opinion on orphan designation.Lentiviral vector containing the human liver and erythroid pyruvate kinase (PKLR) gene for the treatment of pyruvate kinase deficiency. 2014
  • Mclennan Y, Polussa J, Tassone F, Hagerman R. Fragile x syndrome. Curr Genomics 2011;12(3):216-24
  • Erickson CA, Wink LK, Ray B, et al. Impact of acamprosate on behavior and brain-derived neurotrophic factor: an open-label study in youth with fragile X syndrome. Psychopharmacology (Berl) 2013;228(1):75-84
  • Agency EM. Public summary of opinion on orphan designation: (3S)-(+)-(5-chloro-2-methoxyphenyl)-1,3-dihydro-3-fluoro-6-(trifluoromethyl)-2H-indol-2-one for the treatment of fragile X syndrome. Public summary of opinion on orphan designation: (3S)-(+)-(5-chloro-2-methoxyphenyl)-1,3-dihydro-3-fluoro-6-(trifluoromethyl)-2H-indol-2-one for the treatment of fragile X syndrome. 2014
  • Agency EM. Public summary of opinion on orphan designation Acamprosate calcium for the treatment of fragile X syndrome. Public summary of opinion on orphan designation Acamprosate calcium for the treatment of fragile X syndrome. 2014
  • Sampietro M, Iolascon A. Molecular pathology of Crigler-Najjar type I and II and Gilbert’s syndromes. Haematologica 1999;84(2):150-7
  • Lysy PA, Najimi M, Stephenne X, et al. Liver cell transplantation for Crigler-Najjar syndrome type I: update and perspectives. World J Gastroenterol 2008;14(22):3464-70
  • Agency EM. Public summary of opinion: Adeno-associated viral vector serotype 8 containing the human UGT1A1gene for the treatment of Crigler-Najjar Public summary of opinion: Adeno-associated viral vector serotype 8 containing the human UGT1A1gene for the treatment of Crigler-Najjar. 2014
  • Ruhoy IS, Saneto RP. The genetics of Leigh syndrome and its implications for clinical practice and risk management. Appl Clin Genet 2014; 7:221-34
  • Agency EM. Public summary of opinion on orphan designation (S)-6-hydroxy-2,5,7,8-tetramethyl-N-((R)-piperidin-3-yl)chroman-2-carboxamide hydrochloride for the treatment of Leigh syndrome. Public summary of opinion on orphan designation (S)-6-hydroxy-2,5,7,8-tetramethyl-N-((R)-piperidin-3-yl)chroman-2-carboxamide hydrochloride for the treatment of Leigh syndrome. 2014
  • Ahmad S. Concise review: limbal stem cell deficiency, dysfunction, and distress. Stem Cells Tarnsl Med 2012;1(2):110-15
  • Ahmad S, Osei-Bempong C, Dana R, Jurkunas U. The culture and transplantation of human limbal stem cells. J Cell Physiol 2010;225(1):15-19
  • Agency EM. Public summary of opinion on orphan designation.Cultured allogeneic corneal limbal stem cells for the treatment of limbal stem cell deficiency. Public summary of opinion on orphan designation.Cultured allogeneic corneal limbal stem cells for the treatment of limbal stem cell deficiency. 2014
  • Arnoux JB, Verkarre V, Saint-Martin C, et al. Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphanet J Rare Dis 2011;6:63
  • Agency EM. Public summary of opinion on orphan designation: Glucagon for the treatment of congenital hyperinsulinism Public summary of opinion on orphan designation: Glucagon for the treatment of congenital hyperinsulinism. 2014
  • Clayton PT. B6-responsive disorders: a model of vitamin dependency. J Inherit Metab Dis 2006;29(2-3):317-26
  • Agency EM. Public summary of opinion: pyridoxal 5’-phosphate for the treatment of pyridoxamine 5’-phosphate oxidase deficiency. Public summary of opinion: pyridoxal 5’-phosphate for the treatment of pyridoxamine 5’-phosphate oxidase deficiency. 2014
  • Agency EM. Public summary of opinion: recombinant human monoclonal antibody of the IgG1 kappa class against human macrophage colony-stimulating factor for the treatment of tenosynovial giant cell tumour, localised and diffused type. Public summary of opinion: recombinant human monoclonal antibody of the IgG1 kappa class against human macrophage colony-stimulating factor for the treatment of tenosynovial giant cell tumour, localised and diffused type. 2014
  • Saito T, Nishii Y, Yasuda T, et al. Familial hypophosphatemic rickets caused by a large deletion in PHEX gene. Eur J Endocrinol 2009;161(4):647-51
  • Carpenter TO, Imel EA, Holm IA, et al. A clinician’s guide to X-linked hypophosphatemia. J Bone Miner Res2011;26(7):1381-8
  • Carpenter TO, Imel EA, Ruppe MD, et al. Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia. J Clin Invest 2014;124(4):1587-97
  • Agency EM. Public summary of opinion on orphan designation: recombinant human monoclonal IgG1 antibody for fibroblast growth factor 23 for the treatment of X-linked hypophosphataemia. Public summary of opinion on orphan designation: recombinant human monoclonal IgG1 antibody for fibroblast growth factor 23 for the treatment of X-linked hypophosphataemia. 2014
  • Lopez-Estevez S, Ferrer G, Torres-Torronteras J, et al. Thymidine phosphorylase is both a therapeutic and a suicide gene in a murine model of mitochondrial neurogastrointestinal encephalomyopathy. Gene Ther 2014;21(7):673-81

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