GriesenbachU, PytelKM, AltonEWFW. Cystic fibrosis gene therapy in the UK and elsewhere. Hum Gene Ther, 2015; 26:266–275.
2.
RiordanJR, RommensJM, KeremBS, et al.Identification of the cystic fibrosis gene—cloning and characterization of complementary DNA. Science, 1989; 245:1066–1072.
WangY, WrennallJA, CaiZ, et al.Understanding how cystic fibrosis mutations disrupt CFTR function: from single molecules to animal models. Int J Biochem Cell Biol, 2014; 52:47–57.
5.
CuyxS, De BoeckK. Treating the underlying cystic fibrosis transmembrane conductance regulator defect in patients with cystic fibrosis. Semin Respir Crit Care Med, 2019; 40:762–774.
6.
HanST, RabA, PellicoreMJ, et al.Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators. JCI Insight, 2018; 3:e121159.
7.
ShteinbergM, Taylor-CousarJL. Impact of CFTR modulator use on outcomes in people with severe cystic fibrosis lung disease. Eur Respir Rev, 2020; 29:190112.
8.
Vertex and treating CF costs can unsettle, but Vertex remains close to community. cysticfibrosisnewstoday.com/2018/09/24/vertex-and-treating-cf-costs-can-unsettle-but-vertex-remains-close-to-community-interview-series (last accessed May 28, 2020).
9.
Cystic Fibrosis Foundation launches $500 million path to a cure. www.cff.org/About-Us/Media-Center/Press-Releases/Cystic-Fibrosis-Foundation-Launches-$500-Million-Path-to-a-Cure (last accessed May28, 2020).
10.
AltonEWFW, ArmstrongDK, AshbyD, 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; 3:684–691.
11.
SinnPL, AriasAC, BrogdenKA, et al.Lentivirus vector can be readministered to nasal epithelia without blocking immune responses. J Virol, 2008; 82:10684–10692.
12.
GriesenbachU, InoueM, MengC, et al.Assessment of F/HN-pseudotyped lentivirus as a clinically relevant vector for lung gene therapy. Am J Respir Crit Care Med, 2012; 186:846–856.
13.
MalinR. New partnership develops gene therapy for cystic fibrosis. www.boehringer-ingelheim.com/press-release/new-partnership-develop-gene-therapy-cystic-fibrosis (last accessed May28, 2020).
AuricchioA, O'ConnorE, WeinerD, et al.Noninvasive gene transfer to the lung for systemic delivery of therapeutic proteins. J Clin Invest, 2002; 110:499–504.
16.
LimberisMP, WilsonJM. Adeno-associated virus serotype 9 vectors transduce murine alveolar and nasal epithelia and can be readministered. Proc Natl Acad Sci U S A, 2006; 103:12993–12998.
17.
SinnPL, BurnightER, McCrayPB. Progress and prospects: prospects of repeated pulmonary administration of viral vectors. Gene Ther, 2009; 16:1059–1065.
18.
SchlimgenR, HowardJ, WooleyD, et al.Risks associated with lentiviral vector exposures and prevention strategies. J Occup Environ Med, 2016; 58:1159–1166.
19.
Corrigan-CurayJ, Cohen-HaguenauerO, O'ReillyM, et al.Challenges in vector and trial design using retroviral vectors for long-term gene correction in hematopoietic stem cell gene therapy. Mol Ther, 2012; 20:1084–1094.
20.
WallDA, KruegerJ. Chimeric antigen receptor T cell therapy comes to clinical practice. Curr Oncol, 2020; 27:S115–S123.
21.
AltonEWFW, BeekmanJM, BoydAC, et al.Preparation for a first-in-man lentivirus trial in patients with cystic fibrosis. Thorax, 2016; 72:137–147.
22.
MitomoK, GriesenbachU, InoueM, et al.Toward gene therapy for cystic fibrosis using a lentivirus pseudotyped with sendai virus envelopes. Mol Ther, 2010; 18:1173–1182.
WilsonRC, GilbertLA. The promise and challenge of in vivo delivery for genome therapeutics. ACS Chem Biol, 2018; 13:376–382.
25.
HodgesCA, ConlonRA. Delivering on the promise of gene editing for cystic fibrosis. Genes Dis, 2019; 6:97–108.
26.
MentionK, SantosL, HarrisonPT. Gene and base editing as a therapeutic option for cystic fibrosis-learning from other diseases. Genes Basel, 2019; 10:387.
27.
GossCH, Mayer-HamblettN, KronmalRA, et al.The cystic fibrosis therapeutics development network (CF TDN): a paradigm of a clinical trials network for genetic and orphan diseases. Adv Drug Deliv Rev, 2002; 54:1505–1528.
28.
De BoeckK, BulteelV, TiddensH, et al.Guideline on the design and conduct of cystic fibrosis clinical trials: the European Cystic Fibrosis Society—Clinical Trials Network (ECFS-CTN). J Cyst Fibros, 2011; 10Suppl 2:S67–S74.
29.
De BoeckK, LeeT, AmaralM, et al.Cystic fibrosis drug trial design in the era of CFTR modulators associated with substantial clinical benefit: stakeholders' consensus view. J Cyst Fibros, 2020;S1569-1993(20)30162-4.
30.
HabibAR, KajbafzadehM, DesaiS, et al.A systematic review of the clinical efficacy and safety of CFTR modulators in cystic fibrosis. Sci Rep, 2019; 9:7234.
31.
BurneyTJ, DaviesJC. Gene therapy for the treatment of cystic fibrosis. Appl Clin Genet, 2012; 5:29–36.
32.
BremerS, HoofT, WilkeM, et al.Quantitative expression patterns of multidrug-resistance P- glycoprotein (MDR1) and differentially spliced cystic-fibrosis transmembrane-conductance regulator mRNA transcripts in human epithelia. Eur J Biochem, 1992; 206:137–149.
33.
WagnerJA, NepomucenoIB, MessnerAH, et al.A phase II, double-blind, randomized, placebo-controlled clinical trial of tgAAVCF using maxillary sinus delivery in patients with cystic fibrosis with antrostomies. Hum Gene Ther, 2002; 13:1349–1359.
34.
MendesF, DoucetL, HinzpeterA, et al.Immunohistochemistry of CFTR in native tissues and primary epithelial cell cultures. J Cyst Fibros, 2004; 3Suppl 2:37–41.
35.
DavidsonH, WilsonA, GrayRD, et al.An immunocytochemical assay to detect human CFTR expression following gene transfer. Mol Cell Probes, 2009; 23:272–280.
36.
KnowlesMR, ParadisoAM, BoucherRC. In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis. Hum Gene Ther, 1995; 6:445–455.
37.
Sermet-GaudelusI, GirodonE, RousselD, et al.Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis. Thorax, 2010; 65:539–544.
38.
MuhlebachMS, ClancyJP, HeltsheSL, et al.Biomarkers for cystic fibrosis drug development. J Cyst Fibros, 2016; 15:714–723.
39.
KyrilliS, HenryT, WilschanskiM, et al.Insights into the variability of nasal potential difference, a biomarker of CFTR activity. J Cyst Fibros, 2020; 19:620–626.
40.
NaehrlichL, BallmannM, DaviesJ, et al.Nasal potential difference measurements in diagnosis of cystic fibrosis: an international survey. J Cyst Fibros, 2014; 13:24–28.
41.
DaviesJC, DaviesM, McShaneD, et al.Potential difference measurements in the lower airway of children with and without cystic fibrosis. Am J Respir Crit Care Med, 2005; 171:1015–1019.
42.
StanojevicS, WadeA, StocksJ. Reference values for lung function: past, present and future. Eur Respir J, 2010; 36:12–19.
43.
DaviesJC, CunninghamS, AltonEWFW, et al.Lung clearance index in CF: a sensitive marker of lung disease severity. Thorax, 2008; 63:96–97.
44.
SaundersC, BayfieldK, IrvingS, et al.Developments in multiple breath washout testing in children with cystic fibrosis. Curr Med Res Opin, 2017; 33:613–620.
45.
SaundersC, JensenR, RobinsonPD, et al.Integrating the multiple breath washout test into international multicentre trials. J Cyst Fibros. 2020; 19:602–607.
46.
StahlM, WielputzMO, GraeberSY, et al.Comparison of lung clearance index and magnetic resonance imaging for assessment of lung disease in children with cystic fibrosis. Am J Respir Crit Care Med, 2017; 195:349–359.
47.
MartiniK, GygaxCM, BendenC, et al.Volumetric dynamic oxygen-enhanced MRI (OE-MRI): comparison with CT Brody score and lung function in cystic fibrosis patients [published correction appears in Eur Radiol. 2018 Jun 12;:]. Eur Radiol, 2018; 28:4037–4047.
48.
ShirleyJL, De JongYP, TerhorstC, et al.Immune responses to viral gene therapy vectors. Mol Ther, 2020; 28:709–722.
49.
FischerA, Hacein-Bey-AbinaS. Gene therapy for severe combined immunodeficiencies and beyond. J Exp Med, 2020; 217:e20190607.
50.
MohanlalR, QiuY, ZhengM, et al.Long-term safety follow-up of subjects previously treated with non-replicating retroviral vector-based gene therapies. Mol Diagn Ther, 2016; 20:591–602.
51.
Food and Drug Administration. Long Term Follow-up After Administration of Human Gene Therapy Products. Guidance for Industry. www.fda.gov/regulatory-information/search-fda-guidance-documents/long-term-follow-after-administration-human-gene-therapy-products (last accessed May28, 2020).
52.
KolbM, MartinG, MedinaM, et al.Gene therapy for pulmonary diseases. Chest, 2006; 130:879–884.
53.
ChiuchioloMJ, CrystalRG. Gene therapy for alpha-1 antitrypsin deficiency lung disease. Ann Am Thorac Soc, 2016; 13Suppl 4:S352–S369.
54.
CurielDT, PilewskiJM, AlbeldaSM. Gene therapy approaches for inherited and acquired lung diseases. Am J Respir Cell Mol Biol, 1996; 14:1–18.
Al-JamalR, WallaceWA, HarrisonDJ. Gene therapy for chronic obstructive pulmonary disease: twilight or triumph?. Expert Opin Biol Ther, 2005; 5:333–346.
57.
Paul-SmithM, GelinasJ, PytelK, et al.Gene therapy for alpha-1-antitrypsin deficiency using a pseudotyped lentivirus vector. Thorax, 2015; 70(Suppl 3):A72–A73.
Paul-SmithMC, PytelKM, GelinasJF, et al.The murine lung as a factory to produce secreted intrapulmonary and circulatory proteins. Gene Ther, 2018; 25:345–358.
60.
BakkerJM, BleekerWK, ParrenPW. Therapeutic antibody gene transfer: an active approach to passive immunity. Mol Ther, 2004; 10:411–416.
61.
TouchotN, FlumeM. Early insights from commercialization of gene therapies in Europe. Genes Basel, 2017; 8:78.
62.
BurkiTK. Negotiations between the NHS and Vertex on access to lumacaftor and ivacaftor become protracted. Lancet Respir Med, 2019; 7:739–740.
63.
SilvermanE. Oh, Canada! Vertex battles another country over access to cystic fibrosis treatments. www.statnews.com/pharmalot/2020/03/04/vertex-canada-cystic-fibrosis (last accessed May28, 2020).
64.
ValkamaAJ, OruetxebarriaI, LipponenEM, et al.Development of large-scale downstream processing for lentiviral vectors. Mol Ther Methods Clin Dev, 2020; 17:717–730.
65.
KellyJ. Environmental scan of cystic fibrosis research worldwide. J Cyst Fibros, 2017; 16:367–370.