Searching for a cure for cystic fibrosis. A 25-year quest in a nutshell

Sustained Benefit from Ivacaftor Demonstrated by Combining Clinical Trial and Cystic Fibrosis Patient Registry Data

(2015) Gregory S. Sawicki et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

WS01.1 rAAV2/5 encoding a truncated CFTR rescues the CF phenotype in intestinal organoids and a CF mouse model

(2015) M.S. Carlon et al.   Journal of Cystic Fibrosis

Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR

(2015) Claire E. Wainwright et al.   NEW ENGLAND JOURNAL OF MEDICINE

New pharmacological approaches for cystic fibrosis: Promises, progress, pitfalls

(2015) Scott C. Bell et al.   PHARMACOLOGY & THERAPEUTICS

Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial

(2015) Richard B Moss et al.   Lancet Respiratory Medicine

Measurements of Functional Responses in Human Primary Lung Cells as a Basis for Personalized Therapy for Cystic Fibrosis

(2015) Nikhil T. Awatade et al.   EBioMedicine

Clinical Mechanism of the Cystic Fibrosis Transmembrane Conductance Regulator Potentiator Ivacaftor in G551D-mediated Cystic Fibrosis

(2014) Steven M. Rowe et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation

(2014) Daniela De Stefano et al.   Autophagy

The relative frequency of CFTR mutation classes in European patients with cystic fibrosis

(2014) K. De Boeck et al.   Journal of Cystic Fibrosis

Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation

(2014) Kris De Boeck et al.   Journal of Cystic Fibrosis

Potentiator ivacaftor abrogates pharmacological correction of  F508 CFTR in cystic fibrosis

(2014) D. M. Cholon et al.   Science Translational Medicine

Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial

(2014) Eitan Kerem et al.   Lancet Respiratory Medicine

Factors associated with FEV1 decline in cystic fibrosis: analysis of the ECFS Patient Registry

(2013) E. Kerem et al.   EUROPEAN RESPIRATORY JOURNAL

Antisense Oligonucleotides for the Treatment of Spinal Muscular Atrophy

(2013) Paul N. Porensky et al.   HUMAN GENE THERAPY

Moving forward: cystic fibrosis gene therapy

(2013) U. Griesenbach et al.   HUMAN MOLECULAR GENETICS

Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function

(2013) Fredrick Van Goor et al.   Journal of Cystic Fibrosis

Lung clearance index: Evidence for use in clinical trials in cystic fibrosis

(2013) L. Kent et al.   Journal of Cystic Fibrosis

VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1

(2013) Hong Yu Ren et al.   MOLECULAR BIOLOGY OF THE CELL

Mechanism-based corrector combination restores ΔF508-CFTR folding and function

(2013) Tsukasa Okiyoneda et al.   Nature Chemical Biology

A functional CFTR assay using primary cystic fibrosis intestinal organoids

(2013) Johanna F Dekkers et al.   NATURE MEDICINE

Correction of mutations within the cystic fibrosis transmembrane conductance regulator by site-directed RNA editing

(2013) M. F. Montiel-Gonzalez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect

(2013) Michael P Boyle et al.   Lancet Respiratory Medicine

Hot off the breath: ‘I've a cost for’—the 64 million dollar question: Table 1

(2012) Andrew Bush et al.   THORAX

A CFTR Potentiator in Patients with Cystic Fibrosis and theG551DMutation

(2011) Bonnie W. Ramsey et al.   NEW ENGLAND JOURNAL OF MEDICINE

The n-of-1 clinical trial: the ultimate strategy for individualizing medicine?

(2011) Elizabeth O Lillie et al.   Personalized Medicine

Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for theF508del-CFTRmutation

(2011) J P Clancy et al.   THORAX

Lentiviral Vectors and Cystic Fibrosis Gene Therapy

(2010) Stefano Castellani et al.   Viruses-Basel

What’s new in cystic fibrosis? From treating symptoms to correction of the basic defect

(2008) Marijke Proesmans et al.   EUROPEAN JOURNAL OF PEDIATRICS

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

(2008) C. Castellani et al.   Journal of Cystic Fibrosis