European coordinated action for research in Cystic Fibrosis

Data inizio
1 giugno 2006
Durata (mesi) 
Responsabili (o referenti locali)
Pignatti Pierfranco

Cystic Fibrosis (CF) is a very common life-shortening, genetic disease in Europe afflicting about 30,000
individuals in the European Union (EU). Mutations in a single gene encoding the cystic fibrosis
transmembrane conductance regulator (CFTR) cause CF and a spectrum of related disorders. Despite
impressive advances in understanding the disease, patient life expectancy and quality of life remain
limited because resources are scattered in Europe. Thus, CF remains a serious medical issue for
Europe. CF highlights the complex challenges of genetic diseases in the post-genomic era, pioneering
explanations for pathological mechanisms and rational approaches to therapy.
Because CF causes severe lung disease, the main respiratory diseases affecting EU-populations might ultimately benefit from advancements in CF research. Moreover, CF is a model monogenic disorder for molecular medicine,
with its complex pathogenesis serving as a paradigm for the study of important multifactorial diseases.
Building on the success of the 5FP-funded CF Thematic Network (, a three-year
Coordination Action, EuroCareCF (European Coordination Action for Research in Cystic Fibrosis) will
unite CF research in Europe. EuroCareCF will translate research results into optimised clinical
management and therapy development to promote good standards of care for European CF patients.
Finally, EuroCareCF will promote best practice in EU New Member States that will benefit greatly from
knowledge transfer and participation in this project.
EuroCareCF project is organised into a series of eight workpackages. Our group is part of the “WP3: Clinical Research - CF-related diseases”.
The inclusion of obstructive azoospermia among CF-related diseases has led to the possibility to screen
for CFTR gene mutations during in vitro fertilization procedures to avoid the risk of having a CF child.
The definition of other CF-related diseases may have similar useful applications in disease prevention in
the family of affected individuals. New treatments developed for CF may be beneficial also in some of
these CF-related diseases. Clinical and basic research in CF-related diseases may better explain the
continuum of clinical and laboratory manifestations of this group of diseases, which has correctly been
included together with CF in the last version of the International Classification of Diseases, when at least
one CFTR mutation has been identified.
We will survey and recruit additional professionals with special expertise in the various aspects of the clinical
research areas involved. A subset of these professionals will collect information about current practice in Europe and detect critical areas where standardization is especially required. Drafts for guidelines and recommendations will be made by subgroup leaders and deputies group discussions and production of guidelines, where necessary in cooperation with Workpages 1 (Patient Care), 2 (Registry) and 8 (Ethics)

Enti finanziatori:

Unione Europea
Finanziamento: assegnato e gestito dal dipartimento
Programma: EUROPA - Progetti Europei

Partecipanti al progetto

Francesca Belpinati
Cristina Bombieri
Professore associato

Collaboratori esterni

David Shepard
University of Bristol
Christiane De Boeck
University Hospital of Leuven, Leuven, Belgium
Claude Ferec
University of Brest (France)