References
Acland, G. M., G. D. Aguirre, J. Ray, Q. Zhang, T. S. Aleman, A. V. Cideciyan, S. E. Pearce-Kelling, V. Anand, Y. Zeng, A. M. Maguire, S. G. Jacobson, W. W. Hauswirth, and J. Bennett. 2001. Gene therapy restores vision in a canine model of childhood blindness. Nature Genetics 28(1):92–95.
Aslam, H. M., S. Yousuf, A. Kassim, S. M. Iqbal, and S. K. Hashmi. 2018. Hematopoietic stem cell transplantation for adult sickle cell disease in the era of universal donor availability. Bone Marrow Transplant 53(11):1390–1400.
Atlas, A. B., and J. R. Rosh. 2011. 81–Cystic fibrosis and congenital anomalies of the exocrine pancreas. In Pediatric Gastrointestinal and Liver Disease (4th edition). Philiadelphia, PA: Elsevier. Pp. 890–904.
Bennicelli, J., J. F. Wright, A. Komaromy, J. B. Jacobs, B. Hauck, O. Zelenaia, F. Mingozzi, D. Hui, D. Chung, T. S. Rex, Z. Wei, G. Qu, S. Zhou, C. Zeiss, V. R. Arruda, G. M. Acland, L. F. Dell’Osso, K. A. High, A. M. Maguire, and J. Bennett. 2008. Reversal of blindness in animal models of Leber congenital amaurosis using optimized AAV2-mediated gene transfer. Molecular Therapy 16(3):458–465.
Bessonova, L., N. Volkova, M. Higgins, L. Bengtsson, S. Tian, C. Simard, M. W. Konstan, G. S. Sawicki, A. Sewall, S. Nyangoma, A. Elbert, B. C. Marshall, and D. Bilton. 2018. Data from the U.S. and UK cystic fibrosis registries support disease modification by CFTR modulation with ivacaftor. Thorax 73(8):731–740.
Bhakta, N., Q. Liu, K. K. Ness, M. Baassiri, H. Eissa, F. Yeo, W. Chemaitilly, M. J. Ehrhardt, J. Bass, M. W. Bishop, K. Shelton, L. Lu, S. Huang, Z. Li, E. Caron, J. Lanctot, C. Howell, T. Folse, V. Joshi, D. M. Green, D. A. Mulrooney, G. T. Armstrong, K. R. Krull, T. M. Brinkman, R. B. Khan, D. K. Srivastava, M. M. Hudson, Y. Yasui, and L. L. Robison. 2017. The cumulative burden of surviving childhood cancer: An initial report from the St. Jude Lifetime Cohort Study (SJLIFE). Lancet (London, England) 390(10112):2569–2582.
Bond, J. E., P. S. Kishani, and D. D. Koeberl. 2019. Immunomodulatory, liver depot gene therapy for Pompe disease. Cell Immunology 342:103737.
Chan, Y. B., I. Miguel-Aliaga, C. Franks, N. Thomas, B. Trülzsch, D. B. Sattelle, K. E. Davies, and M. van den Heuvel. 2003. Neuromuscular defects in a Drosophila survival motor neuron gene mutant. Human Molecular Genetics 12(12):1367–1376.
Chung, D. C., S. McCague, Z.-F. Yu, S. Thill, J. DiStefano-Pappas, J. Bennett, D. Cross, K. Marshall, J. Wellman, and K. A. High. 2018. Novel mobility test to assess functional vision in patients with inherited retinal dystrophies. Clinical & Experimental Ophthalmology 46(3):247–259.
Chung, D. C., M. Bertelsen, B. Lorenz, M. E. Pennesi, B. P. Leroy, C. P. Hamel, E. Pierce, J. Sallum, M. Larsen, K. Stieger, M. Preising, R. Weleber, P. Yang, E. Place, E. Liu, G. Schaefer, J. DiStefano-Pappas, O. U. Elci, S. McCague, J. A. Wellman, K. A. High, and K. Z. Reape. 2019. The natural history of inherited retinal dystrophy due to biallelic mutations in the RPE65 gene. American Journal of Ophthalmology 199:58–70.
Darras, B. T., T. O. Crawford, R. S. Finkel, E. Mercuri, D. C. De Vivo, M. Oskoui, E. F. Tizzano, M. M. Ryan, F. Muntoni, G. Zhao, J. Staropoli, A. McCampbell, M. Petrillo, C. Stebbins, S. Fradette, W. Farwell, and C. J. Sumner. 2019. Neurofilament as a potential biomarker for spinal muscular atrophy. Annals of Clinical and Translational Neurology 6(5):932–944.
De Sanctis, R., G. Coratti, A. Pasternak, J. Montes, M. Pane, E. S. Mazzone, S. D. Young, R. Salazar, J. Quigley, M. C. Pera, L. Antonaci, L. Lapenta, A. M. Glanzman, D. Tiziano, F. Muntoni, B. T. Darras, D. C. De Vivo, R. Finkel, and E. Mercuri. 2016. Developmental milestones in Type I spinal muscular atrophy. Neuromuscular Disorders 26(11):754–759.
Duque, S. I., W. D. Arnold, P. Odermatt, X. Li, P. N. Porensky, L. Schmelzer, K. Meyer, S. J. Kolb, D. Schümperli, B. K. Kaspar, and A. H. Burghes. 2015. A large animal model of spinal muscular atrophy and correction of phenotype. Annals of Neurology 77(3):399–414.
Feldkötter, M., V. Schwarzer, R. Wirth, T. F. Wienker, and B. Wirth. 2002. Quantitative analyses of SMN1 and SMN2 based on real-time lightcycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. American Journal of Human Genetics 70(2):358–368.
Finkel, R. S., M. P. McDermott, P. Kaufmann, B. T. Darras, W. K. Chung, D. M. Sproule, P. B. Kang, A. R. Foley, M. L. Yang, W. B. Martens, M. Oskoui, A. M. Glanzman, J. Flickinger, J. Montes, S. Dunaway, J. O’Hagen, J. Quigley, S. Riley, M. Benton, P. A. Ryan, M. Montgomery, J. Marra, C. Gooch, and D. C. De Vivo. 2014. Observational study of spinal muscular atrophy Type I and implications for clinical trials. Neurology 83(9):810–817.
Fitzhugh, C. D., M. M. Hsieh, D. Allen, W. A. Coles, C. Seamon, M. Ring, X. Zhao, C. P. Minniti, G. P. Rodgers, A. N. Schechter, J. F. Tisdale, and J. G. Taylor, 6th. 2015. Hydroxyurea-increased fetal hemoglobin is associated with less organ damage and longer survival in adults with sickle cell anemia. PLOS ONE 10(11):e0141706.
Fitzhugh, C. D., S. Cordes, T. Taylor, W. Coles, K. Roskom, M. Link, M. M. Hsieh, and J. F. Tisdale. 2017a. At least 20% donor myeloid chimerism is necessary to reverse the sickle phenotype after allogeneic HSCT. Blood 130(17):1946–1948.
Fitzhugh, C. D., M. M. Hsieh, T. Taylor, W. Coles, K. Roskom, D. Wilson, E. Wright, N. Jeffries, C. J. Gamper, J. Powell, L. Luznik, and J. F. Tisdale. 2017b. Cyclophosphamide improves engraftment in patients with SCD and severe organ damage who undergo haploidentical PBSCT. Blood Advances 1(11):652–661.
Foust, K. D., E. Nurre, C. L. Montgomery, A. Hernandez, C. M. Chan, and B. K. Kaspar. 2009. Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes. Nature Biotechnology 27(1):59–65.
Fung, M., Y. Yuan, H. Atkins, Q. Shi, and T. Bubela. 2017. Responsible translation of stem cell research: An assessment of clinical trial registration and publications. Stem Cell Reports 8(5):1190–1201.
Gao, Q. Q., and E. M. McNally. 2015. The dystrophin complex: Structure, function, and implications for therapy. Comprehensive Physiology 5(3):1223–1239.
Gluckman, E., B. Cappelli, F. Bernaudin, M. Labopin, F. Volt, J. Carreras, B. Pinto Simões, A. Ferster, S. Dupont, J. de la Fuente, J.-H. Dalle, M. Zecca, M. C. Walters, L. Krishnamurti, M. Bhatia, K. Leung, G. Yanik, J. Kurtzberg, N. Dhedin, M. Kuentz, G. Michel, J. Apperley, P. Lutz, B. Neven, Y. Bertrand, J. P. Vannier, M. Ayas, M. Cavazzana, S. Matthes-Martin, V. Rocha, H. Elayoubi, C. Kenzey, P. Bader, F. Locatelli, A. Ruggeri, M. Eapen, Eurocord, the Pediatric Working Party of the European Society for Blood and Marrow Transplantation, and the Center for International Blood and Marrow Transplant Research. 2017. Sickle cell disease: An international survey of results of HLA-identical sibling hematopoietic stem cell transplantation. Blood 129(11):1548–1556.
Haddad, E., B. R. Logan, L. M. Griffith, R. H. Buckley, R. E. Parrott, S. E. Prockop, T. N. Small, J. Chaisson, C. C. Dvorak, M. Murnane, N. Kapoor, H. Abdel-Azim, I. C. Hanson, C. Martinez, J. J. H. Bleesing, S. Chandra, A. R. Smith, M. E. Cavanaugh, S. Jyonouchi, K. E. Sullivan, L. Burroughs, S. Skoda-Smith, A. E. Haight, A. G. Tumlin, T. C. Quigg, C. Taylor, B. J. Dávila Saldaña, M. D. Keller, C. M. Seroogy, K. B. Desantes, A. Petrovic, J. W. Leiding, D. C. Shyr, H. Decaluwe, P. Teira, A. P. Gillio, A. P. Knutsen, T. B. Moore, M. Kletzel, J. A. Craddock, V. Aquino, J. H. Davis, L. C. Yu, G. D. E. Cuvelier, J. J. Bednarski, F. D. Goldman, E. M. Kang, E. Shereck, M. H. Porteus, J. A. Connelly, T. A. Fleisher, H. L. Malech, W. T. Shearer, P. Szabolcs, M. S. Thakar, M. T. Vander Lugt, J. Heimall, Z. Yin, M. A. Pulsipher, S.-Y. Pai, D. B. Kohn, J. M. Puck, M. J. Cowan, R. J. O’Reilly, and L. D. Notarangelo. 2018. SCID genotype and 6-month post-transplant CD4 count predict survival and immune recovery. Blood 132(17):1737–1749.
Han, S.-O., G. Ronzitti, B. Arnson, C. Leborgne, S. Li, F. Mingozzi, and D. Koeberl. 2017. Low-dose liver-targeted gene therapy for Pompe disease enhances therapeutic efficacy of ERT via immune tolerance induction. Molecular Therapy—Methods & Clinical Development 4:126–136.
Han, S.-O., G. Ronzitti, B. Arnson, C. Leborgne, S. Li, F. Mingozzi, and D. Koeberl. 2019. Erratum: Low-dose liver-targeted gene therapy for Pompe disease enhances therapeutic efficacy of ERT via immune tolerance induction. Molecular Therapy—Methods & Clinical Development 13:431.
Harlaar, L., J. Hogrel, B. Perniconi, M. E. Kruijshaar, D. Rizopoulos, N. Taouagh, A. Canal, E. Brusse, P. A. van Doorn, A. T. van der Ploeg, P. Laforêt, and N. A. M. E. van der Beek. 2019. Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease. Neurology 93(19):e1756–e1767.
Hassell, K. L. 2010. Population estimates of sickle cell disease in the U.S. American Journal of Preventive Medicine 38(4 Suppl):S512–S521.
Holladay, J. T. 1997. Proper method for calculating average visual acuity. Journal of Refractive Surgery 13(4):388–391.
Hollister, B. M., M. C. Gatter, K. E. Abdallah, A. J. Armsby, A. J. Buscetta, Y. J. J. Byeon, K. E. Cooper, S. Desine, A. Persaud, K. E. Ormond, and V. L. Bonham. 2019. Perspectives of sickle cell disease stakeholders on heritable genome editing. The CRISPR Journal 2(6):441–449.
Janssen Pharmaceutica. 2020. Addressing the challenges of drug discovery. https://www.janssen.com/emea/drug-discovery (accessed January 12, 2020).
Koeberl, D. D., L. E. Case, E. C. Smith, C. Walters, S.-O. Han, Y. Li, W. Chen, C. P. Hornik, K. M. Huffman, W. E. Kraus, B. L. Thurberg, D. L. Corcoran, D. Bali, N. Bursac, and P. S. Kishnani. 2018. Correction of biochemical abnormalities and improved muscle function in a phase I/II clinical trial of clenbuterol in Pompe disease. Molecular Therapy 26(9):2304–2314.
Kolb, S. J., C. S. Coffey, J. W. Yankey, K. Krosschell, W. D. Arnold, S. B. Rutkove, K. J. Swoboda, S. P. Reyna, A. Sakonju, B. T. Darras, R. Shell, N. Kuntz, D. Castro, J. Parsons, A. M. Connolly, C. A. Chiriboga, C. McDonald, W. B. Burnette, K. Werner, M. Thangarajh, P. B. Shieh, E. Finanger, M. E. Cudkowicz, M. M. McGovern, D. E. McNeil, R. Finkel, S. T. Iannaccone, E. Kaye, A. Kingsley, S. R. Renusch, V. L. McGovern, X. Wang, P. G. Zaworski, T. W. Prior, A. H. M. Burghes, A. Bartlett, J. T. Kissel, and NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators. 2017. Natural history of infantile-onset spinal muscular atrophy. Annals of Neurology 82(6):883–891.
Lorson, C. L., H. Rindt, and M. Shababi. 2010. Spinal muscular atrophy: Mechanisms and therapeutic strategies. Human Molecular Genetics 19(R1):R111–R118.
Maguire, A. M., F. Simonelli, E. A. Pierce, E. N. Pugh, Jr., F. Mingozzi, J. Bennicelli, S. Banfi, K. A. Marshall, F. Testa, E. M. Surace, S. Rossi, A. Lyubarsky, V. R. Arruda, B. Konkle, E. Stone, J. Sun, J. Jacobs, L. Dell’Osso, R. Hertle, J.-X. Ma, T. M. Redmond, X. Zhu, B. Hauck, O. Zelenaia, K. S. Shindler, M. G. Maguire, J. F. Wright, N. J. Volpe, J. W. McDonnell, A. Auricchio, K. A. High, and J. Bennett. 2008. Safety and efficacy of gene transfer for Leber’s congenital amaurosis. New England Journal of Medicine 358(21):2240–2248.
Maguire, A. M., K. A. High, A. Auricchio, J. F. Wright, E. A. Pierce, F. Testa, F. Mingozzi, J. L. Bennicelli, G.-S. Ying, S. Rossi, A. Fulton, K. A. Marshall, S. Banfi, D. C. Chung, J. I. W. Morgan, B. Hauck, O. Zelenaia, X. Zhu, L. Raffini, F. Coppieters, E. De Baere, K. S. Shindler, N. J. Volpe, E. M. Surace, C. Acerra, A. Lyubarsky, T. M. Redmond, E. Stone, J. Sun, J. W. McDonnell, B. P. Leroy, F. Simonelli, and J. Bennett. 2009. Age-dependent effects of RPE65 gene therapy for Leber’s congenital amaurosis: A phase 1 dose-escalation trial. Lancet 374(9701):1597–1605.
McWhorter, M. L., U. R. Monani, A. H. Burghes, and C. E. Beattie. 2003. Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. Journal of Cell Biology 162(5):919–931.
MDA (Muscular Dystrophy Association). 2020. Duchenne Muscular Dystrophy (DMD). https://www.mda.org/disease/duchenne-muscular-dystrophy/causes-inheritance (accessed February 19, 2020).
Mendell, J. R., S. Al-Zaidy, R. Shell, W. D. Arnold, L. R. Rodino-Klapac, T. W. Prior, L. Lowes, L. Alfano, K. Berry, K. Church, J. T. Kissel, S. Nagendran, J. L’Italien, D. M. Sproule, C. Wells, J. A. Cardenas, M. D. Heitzer, A. Kaspar, S. Corcoran, L. Braun, S. Likhite, C. Miranda, K. Meyer, K. D. Foust, A. H. M. Burghes, and B. K. Kaspar. 2017. Single-dose gene-replacement therapy for spinal muscular atrophy. New England Journal of Medicine 377(18):1713–1722.
Mercuri, E., R. Finkel, J. Montes, E. S. Mazzone, M. P. Sormani, M. Main, D. Ramsey, A. Mayhew, A. M. Glanzman, S. Dunaway, R. Salazar, A. Pasternak, J. Quigley, M. Pane, M. C. Pera, M. Scoto, S. Messina, M. Sframeli, G. L. Vita, A. D’Amico, M. van den Hauwe, S. Sivo, N. Goemans, P. Kaufmann, B. T. Darras, E. Bertini, F. Muntoni, and D. C. De Vivo. 2016. Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials. Neuromuscular Disorders 26(2):126–131.
Monaco, A. P., R. L. Neve, C. Colletti-Feener, C. J. Bertelson, D. M. Kurnit, and L. M. Kunkel. 1986. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 323(6089):646–650.
Monani, U. R., M. Sendtner, D. D. Coovert, D. W. Parsons, C. Andreassi, T. T. Le, S. Jablonka, B. Schrank, W. Rossoll, T. W. Prior, G. E. Morris, and A. H. Burghes. 2000. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in SMN (-/-) mice and results in a mouse with spinal muscular atrophy. Human Molecular Genetics 9(3):333–339.
Naso, M. F., B. Tomkowicz, W. L. Perry, 3rd, and W. R. Strohl. 2017. Adeno-associated virus (AAV) as a vector for gene therapy. BioDrugs: Clinical Immunotherapeutics, Biopharmaceuticals, and Gene Therapy 31(4):317–334.
NIH (National Institutes of Health) Director’s Blog. 2019. A CRISPR approach to treating sickle cell. https://directorsblog.nih.gov/2019/04/02/a-crispr-approach-to-treating-sickle-cell (accessed February 18, 2020).
NLM (National Library of Medicine). 2020. What is gene therapy? https://ghr.nlm.nih.gov/primer/therapy/genetherapy (accessed February 7, 2020).
Oskoui, M., G. Levy, C. J. Garland, J. M. Gray, J. O’Hagen, D. C. De Vivo, and P. Kaufmann. 2007. The changing natural history of spinal muscular atrophy type 1. Neurology 69(20):1931–1936.
Pai, S.-Y., B. R. Logan, L. M. Griffith, R. H. Buckley, R. E. Parrott, C. C. Dvorak, N. Kapoor, I. C. Hanson, A. H. Filipovich, S. Jyonouchi, K. E. Sullivan, T. N. Small, L. Burroughs, S. Skoda-Smith, A. E. Haight, A. Grizzle, M. A. Pulsipher, K. W. Chan, R. L. Fuleihan, E. Haddad, B. Loechelt, V. M. Aquino, A. Gillio, J. Davis, A. Knutsen, A. R. Smith, T. B. Moore, M. L. Schroeder, F. D. Goldman, J. A. Connelly, M. H. Porteus, Q. Xiang, W. T. Shearer, T. A. Fleisher, D. B. Kohn, J. M. Puck, L. D. Notarangelo, M. J. Cowan, and R. J. O’Reilly. 2014. Transplantation outcomes for sickle cell disease, 2000–2009. New England Journal of Medicine 371(5):434–446.
Paulukonis, S. T., J. R. Eckman, A. B. Snyder, W. Hagar, L. B. Feuchtbaum, M. Zhou, A. M. Grant, and M. M. Hulihan. 2016. Defining sickle cell disease mortality using a population-based surveillance system, 2004 through 2008. Public Health Reports 131(2):367–375.
Persaud, A., S. Desine, K. Blizinsky, and V. L. Bonham. 2019. A CRISPR focus on attitudes and beliefs toward somatic genome editing from stakeholders within the sickle cell disease community. Genetics in Medicine 21(8):1726–1734.
Quinn, C. T., Z. R. Rogers, T. L. McCavit, and G. R. Buchanan. 2010. Improved survival of children and adolescents with sickle cell disease. Blood 115(17):3447–3452.
Robison, L. L., and M. M. Hudson. 2014. Survivors of childhood and adolescent cancer: Lifelong risks and responsibilities. Nature Reviews Cancer 14(1):61–70.
Russell, S., J. Bennett, J. A. Wellman, D. C. Chung, Z.-F. Yu, A. Tillman, J. Wittes, J. Pappas, O. Elci, S. McCague, D. Cross, K. A. Marshall, J. Walshire, T. L. Kehoe, H. Reichert, M. Davis, L. Raffini, L. A. George, F. P. Hudson, L. Dingfield, X. Zhu, J. A. Haller, E. H. Sohn, V. B. Mahajan, W. Pfeifer, M. Weckmann, C. Johnson, D. Gewaily, A. Drack, E. Stone, K. Wachtel, F. Simonelli, B. P. Leroy, J. F. Wright, K. A. High, and A. M. Maguire. 2017. Efficacy and safety of voretigene neparvovec (AAV2-HRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: A randomised, controlled, open-label, phase 3 trial. Lancet (London, England) 390(10097):849–860.
Swoboda, K. J., T. W. Prior, C. B. Scott, T. P. McNaught, M. C. Wride, S. P. Reyna, and M. B. Bromberg. 2005. Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function. Annals of Neurology 57(5):704–712.
Thein, S. L., and J. Howard. 2018. How I treat the older adult with sickle cell disease. Blood 132(17):1750–1760.
Thomas, C. E., A. Ehrhardt, and M. A. Kay. 2003. Progress and problems with the use of viral vectors for gene therapy. Nature Reviews Genetics 4(5):346–358.
Verhaart, I. E. C., A. Robertson, I. J. Wilson, A. Aartsma-Rus, S. Cameron, C. C. Jones, S. F. Cook, and H. Lochmüller. 2017. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy—A literature review. Orphanet Journal of Rare Diseases 12(1):124.
Wang, R. T., F. Barthelemy, A. S. Martin, E. D. Douine, A. Eskin, A. Lucas, J. Lavigne, H. Peay, N. Khanlou, L. Sweeney, R. M. Cantor, M. C. Miceli, and S. F. Nelson. 2018. DMD genotype correlations from the Duchenne registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype. Human Mutation 39(9):1193–1202.
Wendler, D., L. Belsky, K. M. Thompson, and E. J. Emanuel. 2005. Quantifying the federal minimal risk standard: Implications for pediatric research without a prospect of direct benefit. JAMA 294(7):826–832.
Xu, L., I. Irony, W. W. Bryan, and B. Dunn. 2017. Development of gene therapies-lessons from nusinersen. Gene Therapy 24(9):527–528.
Zarin, D. A., S. N. Goodman, and J. Kimmelman. 2019. Harms from uninformative clinical trials. JAMA 322(9):813–814.