{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T07:01:03Z","timestamp":1790406063449,"version":"4.1.0"},"update-to":[{"DOI":"10.1002\/14651858.cd012040","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2017,1,19]],"date-time":"2017-01-19T00:00:00Z","timestamp":1484784000000}}],"reference-count":53,"publisher":"Wiley","issue":"1","content-domain":{"domain":["wiley.com","cochranelibrary.com"],"crossmark-restriction":true},"short-container-title":[],"DOI":"10.1002\/14651858.cd012040.pub2","type":"journal-article","created":{"date-parts":[[2017,1,19]],"date-time":"2017-01-19T21:42:33Z","timestamp":1484862153000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Ataluren and similar compounds (specific therapies for premature termination codon class I mutations) for cystic fibrosis"],"prefix":"10.1002","volume":"2017","author":[{"given":"Aisha A","family":"Aslam","sequence":"first","affiliation":[{"name":"University of Liverpool; Department of Women's and Children's Health; Alder Hey Children's NHS Foundation Trust Eaton Road Liverpool UK L12 2AP"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin","family":"Higgins","sequence":"additional","affiliation":[{"name":"Alder Hey Children's NHS Foundation Trust; Eaton Road Liverpool UK L12 2AP"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian P","family":"Sinha","sequence":"additional","affiliation":[{"name":"University of Liverpool; Department of Women's and Children's Health; Alder Hey Children's NHS Foundation Trust Eaton Road Liverpool UK L12 2AP"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin W","family":"Southern","sequence":"additional","affiliation":[{"name":"University of Liverpool; Department of Women's and Children's Health; Alder Hey Children's NHS Foundation Trust Eaton Road Liverpool UK L12 2AP"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,1,19]]},"reference":[{"key":"10.1002\/14651858.CD012040.pub2-BIB0001|cit1","doi-asserted-by":"crossref","first-page":"S64, Abstract n","DOI":"10.1016\/S1569-1993(13)60205-2","article-title":"The use of high resolution computerized tomography of the chest in evaluating the effect of ataluren in nonsense mutation cystic fibrosis (nmCF) lung disease [abstract]","volume":"12 Suppl 1","author":"Ajayi","year":"2013","journal-title":"Journal of Cystic Fibrosis"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0002|cit2","doi-asserted-by":"crossref","first-page":"S21, Abstractt","DOI":"10.1016\/S1569-1993(16)30133-3","article-title":"Ataluren in nonsense mutation cystic fibrosis patients not receiving tobramycin: significant lung function benefits in the paediatric age range","volume":"15 Suppl 1","author":"Davies","year":"2016","journal-title":"Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0003|cit3","doi-asserted-by":"crossref","first-page":"S20, Abstract n","DOI":"10.1016\/S1569-1993(16)30132-1","article-title":"Ataluren significantly reduces exacerbations in nonsense mutation cystic fibrosis patients not receiving tobramycin","volume":"15 Suppl 1","author":"Boeck","year":"2016","journal-title":"Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0004|cit4","first-page":"312, Abstract n","article-title":"Design of the ataluren confirmatory phase 3, randomised, double-blind, placebo-controlled trial in patients with nonsense mutation cystic fibrosis (ACT CF) [abstract]","volume":"49 Suppl 38","author":"DeBoeck","year":"2014","journal-title":"Pediatric Pulmonology"},{"issue":"7","key":"10.1002\/14651858.CD012040.pub2-BIB0005|cit5","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1016\/S2213-2600(14)70100-6","article-title":"Ataluren for the treatment of nonsense-mutation cystic fibrosis: A randomised, double-blind, placebo-controlled phase 3 trial","volume":"2","author":"Kerem","year":"2014","journal-title":"The Lancet. Respiratory Medicine"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0006|cit6","doi-asserted-by":"crossref","first-page":"S118, Abstract","DOI":"10.1016\/S1569-1993(16)30502-1","article-title":"Natural history of patients with cystic fibrosis carrying nonsense mutations: an analysis of placebo-treated patients from the 009 study [abstract]","volume":"15 Suppl 1","author":"Kerem","year":"2016","journal-title":"Journal of Cystic Fibrosis"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0007|cit7","first-page":"312, Abstract n","article-title":"Natural history of cystic fibrosis in patients with nonsense-mutation-mediated disease [abstract]","volume":"47 Suppl 35","author":"Kerem","year":"2012","journal-title":"Pediatric Pulmonology"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0008|cit8","doi-asserted-by":"crossref","first-page":"S17, Abstract n","DOI":"10.1016\/S1569-1993(11)60084-2","article-title":"Phase 3 study of ataluren (PTC124\u00ae) in nonsense mutation cystic fibrosis (nmCF): baseline data [abstract]","volume":"10 Suppl1","author":"Kerem","year":"2011","journal-title":"Journal of Cystic Fibrosis"},{"issue":"S33","key":"10.1002\/14651858.CD012040.pub2-BIB0009|cit9","first-page":"314, Abstract n","article-title":"Phase 3 study of Ataluren (PTC124\u00ae) in nonsense mutation cystic fibrosis (NMCF): demographic & other baseline data [abstract]","volume":"45 Suppl 33","author":"Kerem","year":"2010","journal-title":"Pediatric Pulmonology"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0010|cit10","doi-asserted-by":"crossref","first-page":"S70, Abstract n","DOI":"10.1016\/S1569-1993(14)60230-7","article-title":"The effect of Pseudomonas aeruginosa infection on pulmonary function outcome in a cohort of patients with nonsense mutation cystic fibrosis [abstract]","volume":"13 Suppl 2","author":"Kerem","year":"2014","journal-title":"Journal of Cystic Fibrosis"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0011|cit11","doi-asserted-by":"crossref","first-page":"S15, Abstract n","DOI":"10.1016\/S1569-1993(13)60044-2","article-title":"Interim results of the phase 3 open- label study of ataluren in nonsense mutation cystic fibrosis (nmCF) [abstract]","volume":"12 Suppl 1","author":"Kerem","year":"2013","journal-title":"Journal of Cystic Fibrosis"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0012|cit12","first-page":"311, Abstract n","article-title":"Sustained improvement in lung function in an open-label extension study of ataluren in patients with nonsense mutation cystic fibrosis [abstract]","volume":"49 Suppl 38","author":"Konstan","year":"2014","journal-title":"Pediatric Pulmonology"},{"issue":"S34","key":"10.1002\/14651858.CD012040.pub2-BIB0013|cit13","first-page":"295, Abstract n","article-title":"Pretreatment data from phase 3 study of Ataluren document significant disease burden in a subpopulation of patients with nonsense mutation cystic fibrosis [abstract]","volume":"46 Suppl 34","author":"Konstan","year":"2011","journal-title":"Pediatric Pulmonology"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0014|cit14","first-page":"298, Abstract n","article-title":"Use of different pulmonary exacerbation definitions in the phase 3 clinical trial of ataluren in patients with nonsense mutation cystic fibrosis [abstract]","volume":"48 Suppl 36","author":"Konstan","year":"2013","journal-title":"Pediatric Pulmonology"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0015|cit15","first-page":"290, Abstract n","article-title":"Results of the Phase 3 study of ataluren in nonsense mutation in cystic fibrosis (NMCF) [abstract]","volume":"47 Suppl 35","author":"Rowe","year":"2012","journal-title":"Pediatric Pulmonology"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0016|cit16","first-page":"279, Abstract n","article-title":"The use of chronic inhaled antibiotics in the phase 3 clinical trial of ataluren in patients with nonsense-mutation cystic fibrosis [abstract]","volume":"48 Suppl 36","author":"Rowe","year":"2013","journal-title":"Pediatric Pulmonology"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0017|cit17","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1016\/S0140-6736(08)61168-X","article-title":"Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial","volume":"372","author":"Kerem","year":"2008","journal-title":"Lancet"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0018|cit18","first-page":"294","article-title":"PTC124 induces time-dependent improvements in chloride conductance and clinical parameters in patients with nonsense-mutation-mediated cystic fibrosis [abstract]","volume":"43 Suppl 31","author":"Kerem","year":"2008","journal-title":"Pediatric Pulmonology"},{"issue":"Suppl 2","key":"10.1002\/14651858.CD012040.pub2-BIB0019|cit19","doi-asserted-by":"crossref","first-page":"S22","DOI":"10.1016\/S1569-1993(08)60085-5","article-title":"PTC124 treatment over 3 months improves pharmacodynamic and clinical parameters in patients with nonsense -mutation-mediated CF [abstract]","volume":"7","author":"Wilschanski","year":"2008","journal-title":"Journal of Cystic Fibrosis"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0020|cit20","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1183\/09031936.00120910","article-title":"Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis","volume":"38","author":"Wilschanski","year":"2011","journal-title":"European Respiratory Journal"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0021|cit21","unstructured":"McIntosh J An open-label safety and efficacy study for patients with nonsense mutation cystic fibrosis previously treated with ataluren (PTC124\u00ae) https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02107859"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0022|cit22","first-page":"263","article-title":"Effects of gentamicin on ion transport, MRNA and protein CFTR expression in patients with R1162X: A double blind placebo controlled study [abstract]","volume":"Suppl 24","author":"Pradal","year":"2002","journal-title":"Pediatric Pulmonology"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0023|cit23","unstructured":"Romano L Casciaro R Vanini P Zegarra-Moran O Negro I Minuto N Reduction of sweat ion concentrations following topical application of gentamicin in CF patients carrying nonsense mutations [abstract] 24th European Cystic Fibrosis Conference; 2001 June 6-9; Vienna, Austria 2001 P11"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0024|cit24","first-page":"250","article-title":"Effects of topical applications of gentamicin on sweat test in CF patients carrying nonsense-mutations [abstract]","volume":"Suppl 20","author":"Romano","year":"2000","journal-title":"Pediatric Pulmonology"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0025|cit25","first-page":"244","article-title":"Gentamicin causes functional expression of CFTR in CF patients carrying stop mutations: a double-blind placebo controlled trial [abstract]","volume":"Suppl 20","author":"Wilschanski","year":"2000","journal-title":"Pediatric Pulmonology"},{"issue":"4 Suppl 1","key":"10.1002\/14651858.CD012040.pub2-BIB0026|cit26","doi-asserted-by":"crossref","first-page":"A582","DOI":"10.1016\/S0016-5085(03)82949-9","article-title":"Restoration of CFTR function by gentamicin in cystic fibrosis patients carrying stop mutations: a double blind placebo controlled trial [abstract]","volume":"124","author":"Wilschanski","year":"2003","journal-title":"Gastroenterology"},{"issue":"15","key":"10.1002\/14651858.CD012040.pub2-BIB0027|cit27","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1056\/NEJMoa022170","article-title":"Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations","volume":"349","author":"Wilschanski","year":"2003","journal-title":"New England Journal of Medicine"},{"issue":"10","key":"10.1002\/14651858.CD012040.pub2-BIB0028|cit28","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1164\/rccm.201001-0137OC","article-title":"Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis","volume":"182","author":"Sermet-Gaudelus","year":"2010","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0029|cit29","first-page":"313","article-title":"Children with nonsense-mutation-mediated cystic fibrosis respond to investigational treatment with PTC124 [abstract]","volume":"43 Suppl 31","author":"Sermet-Gaudelus","year":"2008","journal-title":"Pediatric Pulmonology"},{"issue":"Suppl 2","key":"10.1002\/14651858.CD012040.pub2-BIB0030|cit30","doi-asserted-by":"crossref","first-page":"S22","DOI":"10.1016\/S1569-1993(08)60084-3","article-title":"PTC124 induces CFTR full-length production and activity in children with nonsense-mutation-mediated CF [abstract]","volume":"7","author":"Sermet-Gaudelus","year":"2008","journal-title":"Journal of Cystic Fibrosis"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0031|cit31","unstructured":"McIntosh J A phase 3 efficacy and safety study of ataluren (PTC124\u00ae) in patients with nonsense mutation cystic fibrosis https:\/\/clinicaltrials.gov\/ct2\/show\/NCT02139306?term=NCT02139306&rank=1"},{"issue":"6","key":"10.1002\/14651858.CD012040.pub2-BIB0032|cit32","doi-asserted-by":"crossref","first-page":"231-40","DOI":"10.1016\/j.molmed.2007.05.001","article-title":"Cystic fibrosis: a disease of vulnerability to airway surface dehydration","volume":"13","author":"Boucher","year":"2007","journal-title":"Trends in Molecular Medicine"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0033|cit33","unstructured":"Cystic Fibrosis Centre at the Hospital for Sick Children in Toronto Canada Cystic Fibrosis Mutation Database www.genet.sickkids.on.ca\/StatisticsPage.html"},{"issue":"7","key":"10.1002\/14651858.CD012040.pub2-BIB0034|cit34","doi-asserted-by":"crossref","first-page":"1683","DOI":"10.1164\/ajrccm.163.7.2004001","article-title":"Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis","volume":"163","author":"Clancy","year":"2001","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"issue":"5","key":"10.1002\/14651858.CD012040.pub2-BIB0035|cit35","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1164\/rccm.200505-840OE","article-title":"Cystic fibrosis since 1938","volume":"173","author":"Davis","year":"2006","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0036|cit36","unstructured":"Deeks J Higgins J Altman D on behalf of the Cochrane Statistical Methods Group (editors) Chapter 9 Analysing data and undertaking meta-analysis. In: Higgins JPT, Green S (editors). Cochrane Handbook for Systematic Reviews of Interventions Version 5.1.0 (updated March 2011) The Cochrane Collaboration, 2011. Available from www.cochrane-handbook.org"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0037|cit37","volume-title":"Building Biotechnology","author":"Friedman","year":"2014"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0038|cit38","doi-asserted-by":"publisher","first-page":"637","DOI":"10.1056\/NEJM199409083311003","article-title":"Effect of Aerosolized Recombinant Human DNase on Exacerbations of Respiratory Symptoms and on Pulmonary Function in Patients with Cystic Fibrosis","volume":"331","author":"Fuchs","year":"1994","journal-title":"The New England Journal of Medicine"},{"issue":"7414","key":"10.1002\/14651858.CD012040.pub2-BIB0039|cit39","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1136\/bmj.327.7414.557","article-title":"Measuring inconsistency in meta-analyses","volume":"327","author":"Higgins","year":"2003","journal-title":"BMJ"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0040|cit40","unstructured":"Higgins JPT Altman DG Sterne JAC on behalf of the Cochrane Statistical Methods Group and the Cochrane Bias Methods Group (editors) Chapter 8: Assessing risk of bias in included studies. In: Higgins JPT, Green S (editors). Cochrane Handbook for Systematic Reviews of Interventions Version 5.1 (updated March 2011) The Cochrane Collaboration, 2011. Available from www.cochrane-handbook.org"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0041|cit41","unstructured":"Higgins JPT Deeks JJ Altman DG on behalf of the Cochrane Statistical Methods Group (editors) Chapter 16: Special topics in statistics. In: Higgins JPT, Green S (editors). Cochrane Handbook of Systematic Reviews of Interventions. Version 5.1 (updated March 2011) The Cochrane Collaboration, 2011. Available from www.cochrane-handbook.org"},{"issue":"4","key":"10.1002\/14651858.CD012040.pub2-BIB0042|cit42","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1038\/nm0496-467","article-title":"Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations","volume":"2","author":"Howard","year":"1996","journal-title":"Nature Medicine"},{"issue":"1","key":"10.1002\/14651858.CD012040.pub2-BIB0043|cit43","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1089\/gte.1997.1.35","article-title":"Cystic fibrosis in Jews: frequency and mutation distribution","volume":"1","author":"Kerem","year":"1997","journal-title":"Genetic Testing"},{"issue":"6","key":"10.1002\/14651858.CD012040.pub2-BIB0044|cit44","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pbio.1001593","article-title":"A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays","volume":"11","author":"McElroy","year":"2013","journal-title":"PLOS Biology"},{"issue":"5","key":"10.1002\/14651858.CD012040.pub2-BIB0045|cit45","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1378\/chest.130.5.1441","article-title":"CFTR genotype as a predictor of prognosis in cystic fibrosis","volume":"130","author":"McKone","year":"2006","journal-title":"Chest"},{"issue":"6","key":"10.1002\/14651858.CD012040.pub2-BIB0046|cit46","doi-asserted-by":"publisher","first-page":"1615","DOI":"10.1042\/BST0381615","article-title":"Cutting the nonsense: the degradation of PTC-containing mRNAs","volume":"38","author":"Nicholson","year":"2010","journal-title":"Biochemical Society Transactions"},{"issue":"3","key":"10.1002\/14651858.CD012040.pub2-BIB0047|cit47","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD009841","article-title":"Potentiators (specific therapies for class III and IV mutations) for cystic fibrosis","author":"Patel","year":"2015","journal-title":"Cochrane Database of Systematic Reviews"},{"issue":"6","key":"10.1002\/14651858.CD012040.pub2-BIB0048|cit48","doi-asserted-by":"publisher","first-page":"1610","DOI":"10.1378\/chest.08-1190","article-title":"Determination of the minimal clinically important difference scores for the Cystic Fibrosis Questionnaire-Revised respiratory symptom scale in two populations of patients with cystic fibrosis and chronic Pseudomonas aeruginosa airway infection","volume":"135","author":"Quittner","year":"2009","journal-title":"Chest"},{"issue":"2","key":"10.1002\/14651858.CD012040.pub2-BIB0049|cit49","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD010966","article-title":"Correctors (specific therapies for class II CFTR mutations) for cystic fibrosis","author":"Sinha","year":"2014","journal-title":"Cochrane Database of Systematic Reviews"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0050|cit50","unstructured":"CF Trust UK Cystic fibrosis our focus. UK cystic fibrosis registry annual data report 2013 www.cysticfibrosis.org.uk\/media\/598466\/annual-data-report-2013-jul14.pdf"},{"issue":"7140","key":"10.1002\/14651858.CD012040.pub2-BIB0051|cit51","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/nature05756","article-title":"PTC124 targets genetic disorders caused by nonsense mutations","volume":"447","author":"Welch","year":"2007","journal-title":"Nature"},{"key":"10.1002\/14651858.CD012040.pub2-BIB0052|cit52","first-page":"5121-88","article-title":"Cystic fibrosis","volume-title":"The Metabolic and Molecular Basis of Inherited Diseases","author":"Welsh","year":"2001"},{"issue":"15","key":"10.1002\/14651858.CD012040.pub2-BIB0053|cit53","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1056\/NEJMoa022170","article-title":"Gentamicin induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations","volume":"349","author":"Wilschanski","year":"2003","journal-title":"New England Journal of Medicine"}],"updated-by":[{"DOI":"10.1002\/14651858.cd012040.pub3","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2023,3,3]],"date-time":"2023-03-03T00:00:00Z","timestamp":1677801600000}}],"container-title":["Cochrane Database of Systematic Reviews"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/14651858.CD012040.pub2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,12]],"date-time":"2021-08-12T18:20:59Z","timestamp":1628792459000},"score":1,"resource":{"primary":{"URL":"http:\/\/doi.wiley.com\/10.1002\/14651858.CD012040.pub2"}},"subtitle":[],"editor":[{"name":"Cochrane Cystic Fibrosis and Genetic Disorders Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2017,1,19]]},"references-count":53,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2017,1]]}},"URL":"https:\/\/doi.org\/10.1002\/14651858.cd012040.pub2","relation":{"new_version":[{"id-type":"doi","id":"10.1002\/14651858.CD012040.pub3","asserted-by":"object"}]},"ISSN":["1465-1858"],"issn-type":[{"value":"1465-1858","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,19]]}}}