Peter van Mourik

196 Chapter 9 REFERENCES 1. Bessonova, L. et al. Data from the US and UK cystic fibrosis registries support disease modification by CFTR modulation with ivacaftor. Thorax (2018). 2. Dilokthornsakul, P., Hansen, R. N. & Campbell, J. D. Forecasting US ivacaftor outcomes and cost in cystic fibrosis patients with the G551D mutation. Eur. Respir. J. 1697–1705 (2016) doi:10.1183/13993003.01444-2015. 3. Whiting, P. et al. Ivacaftor for the treatment of patients with cystic fibrosis and the G551D mutation: A systematic review and cost-effectiveness analysis. Health Technol. Assess. (Rockv). 18 , 1–106 (2014). 4. Maule, G. et al. Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing. Nat. Commun. 10 , 3556 (2019). 5. Schwank, G. et al. Functional repair of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients. Cell Stem Cell 13 , 653–8 (2013). 6. McCarron, A. et al. Phenotypic characterization and comparison of Phe508del and cystic fibrosis transmembrane conductance regulator (CFTR) knockout rat models of cystic fibrosis generated by CRISPR/Cas9 gene editing. Am. J. Pathol. (2020) doi:10.1016/j.ajpath.2020.01.009. 7. Fan, Z. et al. A sheep model of cystic fibrosis generated by CRISPR/Cas9 disruption of the CFTR gene. JCI insight 3 , (2018). 8. Geurts, M. H. et al. CRISPR-Based Adenine Editors Correct Nonsense Mutations in a Cystic Fibrosis Organoid Biobank. Cell Stem Cell (2020) doi:10.1016/j. stem.2020.01.019. 9. Alton, E. W. F. W. et al. Repeated nebulisation of non-viral CFTR gene therapy in patients with cystic fibrosis: A randomised, double-blind, placebo-controlled, phase 2b trial. Lancet Respir. Med. (2015) doi:10.1016/S2213-2600(15)00245-3. 10. Fakhiri, J. et al. Novel Chimeric Gene Therapy Vectors Based on Adeno- Associated Virus and Four Different Mammalian Bocaviruses. Mol. Ther. Methods Clin. Dev. 12 , 202–222 (2019). 11. Vidović, D. et al. rAAV-CFTRΔR Rescues the Cystic Fibrosis Phenotype in Human Intestinal Organoids and CF Mice. Am. J. Respir. Crit. Care Med. 193 , 1–55 (2015). 12. Drevinek, P. et al. Antisense oligonucleotide eluforsen is safe and improves respiratory symptoms in F508DEL cystic fibrosis. J. Cyst. Fibros. 19 , 99–107 (2020). 13. Igreja, S., Clarke, L. A., Botelho, H. M., Marques, L. & Amaral, M. D. Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides. Hum. Mutat. 37 , 209–15 (2016). 14. Finkel, R. S. et al. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N. Engl. J. Med. 377 , 1723–1732 (2017). 15. Kim, J. et al. Patient-customized oligonucleotide therapy for a rare genetic disease. N. Engl. J. Med. 381 , 1644–1652 (2019).

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