Cystic fibrosis is the most common potentially-fatal genetic disorder among Caucasian children. It is a monogenic autosomal recessive disease characterised by alterations in the CFTR protein, which regulates transmembrane hydroelectrolytic flux. An absence of functional CFTR in the epithelial cell membrane leads to the production of sweat with a high salt content and mucus secretions with an abnormal viscosity leading to stasis and obstruction in various organs. The exact prevalence of cystic fibrosis in Europe is unknown, but estimates range between 1/8 000 and 1/10 000 individuals. The incidence at birth varies between populations, and lies between 1/2 500 to 1/5 000 newborns. The disease is chronic and generally progressive, with onset usually occurring during early childhood. Virtually any internal organ may be involved but the principle manifestations concern the respiratory apparatus (chronic bronchitis due to an increased susceptibility for bacterial infection), pancreas (pancreatic insufficiency, adolescent diabetes and occasionally pancreatitis), the intestine and liver (cirrhosis). The most common form is associated with chronic respiratory infections, digestive problems and impaired growth. Mortality and morbidity in most cases depend on the extent of the bronchopulmonary involvement. Male sterility is a constant feature.
In 2006, the pilot project European Centres of Reference Network for Cystic Fibrosis (ECORN-CF) was selected for funding under the EU 2003-2008 public health action programme, which prioritises the development of European Networks of Reference Centres for Rare Diseases. The idea for this internet-based expert advice resource for cystic fibrosis (CF) originated in Germany. With support both from the European Commission (DG Sanco) as well as the Christiane Herzog Stiftung trust (created by the former German First Lady), this initiative, intended to provide expert advice via the Internet, has been able to expand to other countries in the EU. The scope of its audience includes patients and their families, physicians, physiotherapists, nurses, dieticians, pharmacists, social workers and anyone else who needs specific information relating to cystic fibrosis. At present nine associated partner EU countries participate in ECORN-CF, representing eight language zones (Czech, Dutch, English, German, Lithuanian, Polish, Romanian, and Swedish), represented by 16 care teams and patient groups. Collaborating organisations are located in Cyprus, Denmark, Finland, France, Greece, Italy, Hungary, Norway, Portugal, Slovakia, Spain, Switzerland and Turkey. The project, led by Thomas Wagner, professor in pulmonary medicine (Frankfurt, Germany), has seven distinct work packages: Coordination of the project; Dissemination of the results; Evaluation of the project; Expert advice to CF-patients and other lay people; Expert advice to members of the CF care team; Quality assurance program; Evaluation of the impact of the program on quality of care and implementation of the guidelines.
ECORN-CF for the patient
When CF patients or their families have a question about the illness, they no longer have to wait for the next appointment with their doctor or nurse, but can post their question via the ECORN-CF Internet website and receive an answer from an expert team. All questions and answers remain accessible in the local language in an archive on the local ECORN-CF website. For the sites that are frequently visited, many answers can be found immediately in the archive along with answers provided by the CF experts. In time, the accumulated questions and responses can be used to form an internet–encyclopaedia reference.
…and for the professional
In CF practice questions can arise that are not easily answered. With ECORN-CF, health professionals have the opportunity to ask questions via the Internet and receive an answer from the special CF expert team. When the local team cannot answer a question, it will seek aid from the ECORN-CF collaborating partners. These questions and answers are also archived on the website, but are not available to the lay public.
A multilingual resource
Currently it is possible to pose questions and receive answers in Czech, Dutch, English, German, Lithuanian, Polish, and Romanian. All questions and answers are translated into English for storage in the archives and for quality evaluation purposes. They are accessible from the ECORN-CF Archive. On every local site (e.g. Czech) there is a link to the ECORN-CF Archive located at the top of the local website homepage. It is hoped that this feature will eventually be made available to more people in more languages of the European member states.
To pose a question, one enters the ECORN-CF portal and selects the language desired. Questions can be asked either anonymously or after registering with a personal log-in. Before sending in a question it is advisable to first search the local questions and answers page and (if the questioner is able to understand English) the Ecorn-CF Archive to check whether the answer is already there. The questions already posted are freely accessible. It is necessary to log-in to check the answers to these questions.
Starting a quality ECORN-CF service in another European language
Since one of the aims of the whole ECORN-CF project is the establishment of easier access to high quality information in all European member states, inquiries concerning new languages are especially welcome by the current ECORN-CF team, who will aid new members develop a new language site, as well as help manage the web service and the quality assurance programme, et cetera. In order to launch a local ECORN-CF site, it is necessary to identify CF professionals willing to serve as part of an expert team in the language of the new site. Aside from offering their advice on the net, they must be willing to translate questions and answers into the English language for the English language archives and for quality control measures. To make sure that the advice offered by local ECORN-CF experts meets the highest quality standards, every answer is reviewed for quality and adherence to European guidelines and/or consensus. All questions and answers are thus translated into English and then evaluated by the European Expert team. This quality management programme in conjunction with additional quality round table meetings ensure that all contributing experts are trained to the highest possible level of expertise.
The interactive quality-based informational system of ECORN-CF can easily be applied to other rare diseases.
Contact ECORN-CF