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CFTR resource centre » Publications and websites

Publications and websites

Click on the tabs to move through the sequence.

The resource centre hosts links to CF-related publications and CF organisations throughout Europe. If you are a CF healthcare professional and would like to notify us about other external links, please email the website administrator on admin@cftr.info

Genetics and cell biology of CFTR

This world map poster shows the molecular genetic epidemiology of cystic fibrosis worldwide
This WHO document outlines what is known about the worldwide epidemiology of CF and related disorders.

This world map poster shows the molecular genetic epidemiology of CF worldwide.

Cystic Fibrosis Transmembrane Conductance Regulator Intracellular Processing, Trafficking, and Opportunities for Mutation-Specific Treatment (2011)
This article reviews the structure, function, biosynthetic processing and intracellular trafficking of CFTR. It also provides an overview of mutation classes and their impact on the CF phenotype.


Update on Gene Modifiers in Cystic Fibrosis
(2008)
This review summarises genes that have been demonstrated to affect disease severity in CF (i.e. candidate CFTR gene modifiers).

Cystic Fibrosis: A Worldwide Analysis of CFTR Mutations— Correlation With Incidence Data and Application to Screening (2002)
This (more technical) article reports on the results of a comprehensive analysis of the distribution of CFTR mutations worldwide. The report also stresses the importance of introducing CF neonatal screening programmes that use a combination of sensitive diagnostic tools.

Genotype and Phenotype in Cystic Fibrosis (2000)
Download an article that discusses the molecular and physiological consequences of mutations in CFTR.

CF pathophysiology

Cystic Fibrosis: Pathogenesis and Future Treatment Strategies (2009)
This review article provides an excellent overview of the pathophysiologic mechanism of CF, especially with regard to impact on the airway surface liquid and mucociliary clearance. Please note that information about emerging therapies is no longer up-to-date.

Sodium Channels and Cystic Fibrosis (2007)
CFTR and the epithelial sodium channel (ENaC) both play an important role in the hydration of airway surface liquid. This article reviews the role of  ENaC in this process and details how its dysregulation leads to dehydration of airway surfaces in patients with CF.

Cystic Fibrosis: Lessons from the Sweat Gland (2007)
This review explains the underlying molecular mechanism of the ‘salty sweat’ phenotype that is a hallmark of CF disease.

Cystic Fibrosis: Liver Disease (2006)
Learn more about the prevalence, pathogenesis, clinical features and management of CF-related liver disease. Access to this article requires subscription to Karger Press.

New Concepts of the Pathogenesis of Cystic Fibrosis Lung Disease (2004)
This article discusses – in some detail – current hypotheses for the molecular mechanisms than underpin CF pathophysiology in the airway.

Novel/emerging CF therapies: Reviews

Personalized Medicine in Cystic Fibrosis: Dawning of a New Era (2012)
This article reviews the potential impact of CFTR modulators on CF care. Access to this article requires subscription to the American Journal of Respiratory and Critical Care Medicine.

New Therapies in Cystic Fibrosis (2012)
Read a review of novel therapies (at the time of publication) in pre-clinical and clinical testing, including CFTR modulators, drugs targeting other ion channels and hydrators of the cystic fibrosis airways. Access to this article requires subscription to Bentham Science Publishers.

Cystic Fibrosis Transmembrane Conductance Regulator-modifying Medications: The Future of Cystic Fibrosis Treatment (2012)
This article reviews the use of ivacaftor, VX-809 and ataluren to target the basic defects in CFTR production. Access to this article requires subscription to The Annals of Pharmacology.

Genetic Therapies for Cystic Fibrosis Lung Disease (2011)
Download  a review addressing developments in genetic therapeutic approaches to restoring the normal expression of CFTR protein in airways.

New Horizons in the Treatment of Cystic Fibrosis (2010)
Download this review on novel therapies to treat CF: CFTR modulators, P2Y2 receptor agonists and osmotic agents.

Clinical management and diagnosis of CF

New Clinical Diagnostic Procedures for Cystic Fibrosis in Europe (2011)
This paper is the result of discussions held at meetings of the European Cystic Fibrosis Society Diagnostic Network and discusses how to develop more improved diagnoses of CF in patients with milder phenotypes. Access to this article requires subscription to The Journal of Cystic Fibrosis.

Cystic Fibrosis (2009)
Read a review that provides an overview of CF clinical care and discusses advances in the understanding of CF pathogenesis, implementation of screening of neonates, and development of therapies aimed at treating the basic defect. Access to this article requires subscription to The Lancet.

Cystic Fibrosis Pulmonary Guidelines: Treatment of Pulmonary Exacerbations (2009)
The Cystic Fibrosis Foundation in the USA established a committee to define key questions relating to the management of pulmonary exacerbations. Download the published findings here.

Cystic Fibrosis (2007)
Read a succinct clinical review on the diagnosis, clinical features and management of CF.

Diagnosis and Management of Cystic Fibrosis (2005)
This review focuses on the challenges of diagnosis, clinical complications and management of children with CF.

Publications on CF clinical trials

Clinical Trials in Cystic Fibrosis (2012)
This review outlines important issues in CF drug development, with a particular emphasis on the design and implementation of CF clinical trials.

Clinical Trials in Cystic Fibrosis: Information for Patients (2011)
Download information explaining how a new drug is developed and how CF sufferers can help to make this research advance as rapidly and safely as possible.

A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation (2011)
Read the published results of the Phase 3 clinical trial STRIVE: a randomised, double-blind, placebo-controlled trial to evaluate ivacaftor (VX-770), a CFTR potentiator, in subjects 12 years of age or older with CF and at least one G551D-CFTR mutation.

Effect of VX-770 in Persons with Cystic Fibrosis and the G551D-CFTR Mutation (2010)
Download results of the ivacaftor Phase 2 dose-ranging study to evaluate safety and adverse-event profile of VX-770.

Ataluren (PTC124) Induces Cystic Fibrosis Transmembrane Conductance Regulator Protein Expression and Activity in Children with Nonsense Mutation Cystic Fibrosis (2010)
Read the published results of the Phase 2 study of ataluren in children with CF. The randomised Phase 2a dose-ranging study was designed to evaluate the safety and activity of two ataluren doses in children with CF nonsense mutations.

Effectiveness of PTC124 Treatment of Cystic Fibrosis Caused by Nonsense Mutations: A Prospective Phase II Trial (2008)
This article reports the results of a Phase 2 trial that recruited adults with CF who had at least one nonsense mutation in the CFTR gene. Access to this article requires subscription to The Lancet.

A Phase II Study of PTC124 in CF patients harboring premature stop mutations (2006)
Access to this supplement requires subscription to Pediatric Pulmonology.

Links to resources that that explain more about clinical trials

CF trials

Therapeutic Development Network of the Cystic Fibrosis Foundation in US
The Therapeutics Development Network (TDN) is a nationwide network of nearly 80 CF clinical research centres. These centres specialise in conducting clinical trials to evaluate the safety and effectiveness of new CF therapies.

European Cystic Fibrosis Society – Clinical Trials Network
The ECFS-Clinical Trial Network (ECFS-CTN) was established in 2008 and provides access to 30 large and experienced CF centres, located in 11 different countries throughout Europe.

Cystic Fibrosis Database (CFDB)
The Cystic Fibrosis Database (CFDB) is a searchable bibliographic database compiled by the Italian CF Foundation to provide information on clinical interventions for clinicians, researchers and care-givers. Online help is available, including a video explaining how to use the database.

General

ClinicalTrials.gov
ClinicalTrials.gov is a registry and results database of federally and privately supported clinical trials conducted in the United States and around the world. ClinicalTrials.gov gives you information about the purpose of trials, who may participate, locations and phone numbers for more details.

National Cancer Institute – introduction to clinical trials
The NCI offers basic-to-advanced information for all audiences about clinical trials. Learn about what clinical trials are, why they are important, and why people choose to take part. Also, learn strategies for educating others about the importance of clinical trials.

US Food and Drug administration (FDA)
The FDA is responsible for protecting and promoting public health through the regulation and supervision of food and therapies in the USA. This includes pharmaceutical medications, medical devices and similar products.

European Medicines Agency (EMA)
The EMA is a decentralised agency of the European Union, located in London, UK. The Agency is responsible for the scientific evaluation of medicines developed by pharmaceutical companies for use in the European Union.

Patient Partner Project and European Network for Patients Partnering in Clinical Research
Although the Patient Partner Project closed in 2011, the website offers much information on how to enable a successful and patient-centred partnership between healthcare professionals and the participants of clinical trials.