The emergence of gene therapy for rare diseases

Bibliography

• European Medicines Agency. Press release: European Medicines Agency recommends first gene therapy for approval. Internet Mol Ther 2012.20(10): 1831-2. Available from: http://www.ema.europa.eu/ema/index.jsp?curl=pages/news_and_events/news/2012/07/news_detail_001574.jsp&mid=WC0b01ac058004d5c1 [Cited 2014 October 8]
   Google Scholar
• Food and Drug Admnistriation. FDA news release: FDA approves new orphan drug Kynamro to treat inherited cholesterol disorder [Internet]. 2013. Available from: http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm337195.htm [Cited 2014 October 8]
   Google Scholar
• Crooke ST, Geary RS. Clinical pharmacological properties of mipomersen (Kynamro), a second generation antisense inhibitor of apolipoprotein B. Br J Clin Pharmacol 2013;76:269-76
   PubMed Web of Science ®Google Scholar
• Nathwani AC, Tuddenham EG, Rangarajan S, et al. Adenovirus-associated virus vector–mediated gene transfer in hemophilia B. N Engl J Med 2011;365:2357-65
   PubMed Web of Science ®Google Scholar
• Lesko LJ. Quantitative analysis to guide orphan drug development. Clin Pharmacol Ther 2012;92(2):258-61
   Google Scholar
• Phillips MI. Big Pharma’s new model in orphan drugs and rare diseases. Expert Opin Orphan Drugs 2013;1:1-3
   Web of Science ®Google Scholar
• Wilson JM. Lessons learned from the gene therapy trial for ornithine transcarbamylase deficiency. Mol Genet Metab 2009;96(4):151-7
   PubMed Web of Science ®Google Scholar
• Hacein-Bey-Abina S, von Kalle C, Schmidt M, et al. A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. N Engl J Med 2003;348(3):255-6
   PubMed Web of Science ®Google Scholar
• Hauswirth WW, Aleman TS, Kaushal S, et al. Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther 2008;19:979-90
   PubMed Web of Science ®Google Scholar
• Bainbridge JW, Smith AJ, Barker SS, et al. Effect of gene therapy on visual function in leber’s congenital amaurosis. N Engl J Med 2008;358:2231-9
   PubMed Web of Science ®Google Scholar
• Jacobson SG, Cideciyan AV, Ratnakaram R, et al. Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Arch Ophthalmol 2012;130:9-4
   PubMed Web of Science ®Google Scholar
• Maguire AM, Simonelli F, Pierce EA, et al. Safety and efficacy of gene transfer for leber’s congenital amaurosis. N Engl J Med 2008;358:2240-8
   PubMed Web of Science ®Google Scholar
• Testa F, Maguire AM, Rossi S, et al. Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with leber congenital amaurosis type 2. Ophthalmology 2013;120:1283-91
   PubMed Web of Science ®Google Scholar
• Nienhuis AW. Development of gene therapy for blood disorders: an update. Blood 2013;122(9):1556-64
   PubMed Web of Science ®Google Scholar
• Cartier N, Hacein-Bey-Abina S, Bartholomae CC, et al. Lentiviral hematopoietic cell gene therapy for X-linked adrenoleukodystrophy. Methods Enzymol 2012;507:187-98
   PubMed Web of Science ®Google Scholar
• Cartier N, Hacein-Bey-Abina S, Bartholomae CC, et al. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science 2009;326:818-23
   PubMed Web of Science ®Google Scholar
• Gao GP, Alvira MR, Wang L, et al. Novel adeno-associated viruses from rhesus monkeys as vectors for human gene therapy. Proc Natl Acad Sci USA 2002;99:11854-9
   PubMed Web of Science ®Google Scholar
• Hauck B, Xiao W. Characterization of tissue tropism determinants of adeno-associated virus type 1. J Virol 2003;77:2768-74
   Google Scholar
• Asokan A, Schaffer DV, Samulski RJ. The AAV vector toolkit: poised at the clinical crossroads. Mol Ther 2012;20(4):699-708
   PubMed Web of Science ®Google Scholar
• Nonnenmacher M, Weber T. Intracellular transport of recombinant adeno-associated virus vectors. Gene Ther 2012;19:649-58
   PubMedGoogle Scholar
• Dufour BD, Smith CA, Clark RL, et al. Intrajugular vein delivery of AAV9-RNAi prevents neuropathological changes and weight loss in huntington’s disease mice. Mol Ther 2014;22(4):797-810. Chicago
   Google Scholar
• Cheng H, Wolfe SH, Valencia V, et al. Efficient and persistent transduction of exocrine and endocrine pancreas by adeno-associated virus type 8. J Biomed Sci 2007;14:585-94
   PubMed Web of Science ®Google Scholar
• Drinkut A, Tereshchenko Y, Schulz JB, et al. Efficient gene therapy for Parkinson’s disease using astrocytes as hosts for localized neurotrophic factor delivery. Mol Ther 2011;20(3):534-43. Chicago
   Google Scholar
• El-Aneed A. An overview of current delivery systems in cancer gene therapy. J Control Release 2004;94:1-14
   PubMed Web of Science ®Google Scholar
• Alliance: An OSHA Cooperative Program. Lentivirus Vector Fact Sheet. [Internet]. 2012. Available from: http://www.absa.org/pdf/LentivirusVectorFactSheet.pdf [Accessed 8 October 2014]
   Google Scholar
• Robbins PD, Ghivizzani SC. Viral vectors for gene therapy. Pharmacol Ther 1998;80:35-47
   PubMed Web of Science ®Google Scholar
• Modlich U, Navarro S, Zychlinski D, et al. Insertional transformation of hematopoietic cells by self-inactivating lentiviral and gammaretroviral vectors. Mol Ther 2009;17(11):1919-28
   PubMed Web of Science ®Google Scholar
• Amalfitano A, Hauser MA, Hu H, et al. Production and characterization of improved adenovirus vectors with the E1, E2b, and E3 genes deleted. J Virol 1998;72:926-33
   PubMed Web of Science ®Google Scholar
• Voigtlander R, Haase R, Mück-Hausl M, et al. A novel adenoviral hybrid-vector system carrying a plasmid replicon for safe and efficient cell and gene therapeutic applications. Mol Ther Nucleic Acids 2013;2:e83
   Google Scholar
• Sliva K, Schnierle BS. Selective gene silencing by viral delivery of short hairpin RNA. Virol J 2010;7:248
   PubMed Web of Science ®Google Scholar
• Kotterman MA, Schaffer DV. Engineering adeno-associated viruses for clinical gene therapy. Nat Rev Genet 2014;15(7):445-51
   PubMed Web of Science ®Google Scholar
• Aiuti A, Biasco L, Scaramuzza S, et al. Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome. Science 2013;341:1233151
   PubMed Web of Science ®Google Scholar
• Biffi A, Montini E, Lorioli L, et al. Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Science 2013;341:1233158
   PubMed Web of Science ®Google Scholar
• Li N, Qing L, Tian XQ, et al. Mipomersen is a promising therapy in the management of hypercholesterolemia: a meta-analysis of randomized controlled trials. Am J Cardiovasc Drugs 2014;14:367-76
   PubMed Web of Science ®Google Scholar
• Flemming A. Regulatory watch: pioneering gene therapy on brink of approval. Nat Rev Drug Discov 2012;11(9):664
   PubMed Web of Science ®Google Scholar
• Gaspar HB, Buckland K, Rivati C, et al. Immunological and metabolic correction after lentiviral vector mediated haematopoietic stem cell genetherapy for ADA deficiency. American Society of Gene & Cell Therapy: ASGCT, Molecular Therapy; Washington, USA; 2014. 106
   Google Scholar
• Gaspar HB, Bjorkegren E, Parsley K, et al. Successful reconstitution of immunity in ADA-SCID by stem cell gene therapy following cessation of PEG-ADA and use of mild preconditioning. Mol Ther 2006;14(4):505-13
   PubMed Web of Science ®Google Scholar
• Cavazzana-Calvo M, Payen E, Negre O, et al. Transfusion independence and hmga2 activation after gene therapy of human [bgr]-thalassaemia. Nature 2010;467(7313):318-22
   PubMed Web of Science ®Google Scholar
• Leboulch P. Five year outcome of lentiviral gene therapy for human beta-thalassemia, lessons and prospects. Thalassemia Rep 2013;3:e43
   Google Scholar
• β-Thalassemia major with autologous CD34+ hematopoietic progenitor cells transduced with TNS9.3.55 a lentiviral vector encoding the normal human beta-globin Gene NCT01639690. Available from: http://clinicaltrials.gov/show/NCT01639690
   Google Scholar
• MacLaren RE, Groppe M, Barnard AR, et al. Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. Lancet 2014;383:1129-37
   PubMed Web of Science ®Google Scholar
• Cwerman-Thibault H, Augustin S, Ellouze S, et al. Gene therapy for mitochondrial diseases: Leber Hereditary Optic Neuropathy as the first candidate for a clinical trial. C R Biol 2014;337:193-206
   PubMed Web of Science ®Google Scholar
• Ellouze S, Augustin S, Bouaita A, et al. Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction. Am J Hum Genet 2008;83:373-87
   PubMed Web of Science ®Google Scholar
• Yu H, Mehta A, Wang G, et al. Next-generation sequencing of mitochondrial targeted AAV transfer of human ND4 in mice. Mol Vis 2013;19:1482
   PubMed Web of Science ®Google Scholar
• Phillips MI. Gene, stem cell, and future therapies for orphan diseases. Clin Pharmacol Ther 2012;92:182-92
   Google Scholar
• Rakoczy E, Lai M, Pierce C, et al. Anti-VEGF gene therapy for wet AMD: phase I/II safety and pharmacology results. Invest Ophthalmol Vis Sci 2013;54:4091
   Google Scholar
• Adams D. Recent advances in the treatment of familial amyloid neuropathies. Ther Adv Neurol Disord 2013;6(2):129-39
   PubMed Web of Science ®Google Scholar
• Benson MD, Kluve-Beckerman B, Zeldenrust SR, et al. Targeted suppression of an amyloidogenic transthyretin with antisense oligonucleotides. Muscle Nerve 2006;33(5):609-18
   PubMed Web of Science ®Google Scholar
• Coelho T, Suhr OB, Adams D, et al. Interim clinical update for ALN-TTR01, a novel RNAI therapeutic for the treatment of transthyretin amyloidosis. J Peripher Nerv Syst 2011;16:S25
   Google Scholar
• Cirak S, Arechavala-Gomeza V, Guglieri M, et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet 2011;378(9791):595-605
   PubMed Web of Science ®Google Scholar
• Aartsma-Rus A, van Ommen GJB. Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications. RNA 2007;13(10):1609-24
   PubMed Web of Science ®Google Scholar
• Koo T, Wood MJ. Clinical trials using antisense oligonucleotides in duchenne muscular dystrophy. Hum Gene Ther 2013;24:479-88
   Google Scholar
• Lysogene Receives US Orphan Designation for its Lead Intracerebral Gene Therapy Product SAF-301. 2013
   Google Scholar
• LeWitt PA, Rezai AR, Leehey MA, et al. AAV2-GAD gene therapy for advanced Parkinson’s disease: a double-blind, sham-surgery controlled, randomised trial. Lancet Neurol 2011;10:309-19
   PubMed Web of Science ®Google Scholar
• Palfi S, Gurruchaga JM, Ralph GS, et al. Long-term safety and tolerability of ProSavin, a lentiviral vector-based gene therapy for Parkinson’s disease: a dose escalation, open-label, phase 1/2 trial. Lancet 2014;383(9923):1138-46
   PubMed Web of Science ®Google Scholar
• Smith BK, Collins SW, Conlon TJ, et al. Phase I/II trial of adeno-associated virus–mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes. Hum Gene Ther 2013;24(6):630-40
   PubMed Web of Science ®Google Scholar
• Porter DL, Levine BL, Kalos M, et al. Chimeric antigen receptor–modified T cells in chronic lymphoid leukemia. N Engl J Med 2011;365:725-33
   PubMed Web of Science ®Google Scholar
• Brentjens RJ, Davila ML, Riviere I, et al. CD19-targeted T cells rapidly induce molecular remissions in adults with chemotherapy-refractory acute lymphoblastic leukemia. Sci Transl Med 2013;5:177ra38
   PubMed Web of Science ®Google Scholar
• Adaptimmune. Adaptimmune Announces Interim Results from a Phase I/II Trial of Engineered T Cells Targeting Cancer Testis Antigens in Multiple Myeloma. 2013
   Google Scholar
• Gersbach CA, Perez-Pinera P. Activating human genes with zinc finger proteins, transcription activator-like effectors and CRISPR/Cas9 for gene therapy and regenerative medicine. Expert Opin Ther Targets 2014;18(8):835-9
   PubMed Web of Science ®Google Scholar
• Kaiser J. NIH will no longer require special review for U.S. Gene Therapy Trials. Science 2014. Available from: http://news.sciencemag.org/biology/2014/05/nih-will-no-longer-require-special-review-u.s.-gene-therapy-trials [Cited 2014 October 8]
   Google Scholar