News

Publishable Executive Summary

30 September 2008

1. A database has been established to record details of patients with Wilson Disease (WD) presenting in Europe since January 1st 2005. It may also be used by individual clinicians or centres, or national bodies such as GeneMove or the Centre National de Reference Bernard Pepin pour la Maladie de Wilson, to record their own cases, including those diagnosed before January 1st 2005 ("retrospective cases"). The primary objective is to assess the feasibility of clinical trials in WD.
2. 86 Specialist Country Coordinators (SCCs) in 20 countries have been appointed.
3. SCCs use a web-based protocol using secure CPS cards and card readers to enter data. Clinicians may send patient details on a paper form to SCCs or to the EuroWilson office. Information sheets for patients and families and consent forms are available on line in many languages.
4. A neurological clinical rating score was validated and published. A training DVD on this scoring system has been produced.
5. The Genetics workpackage leader collaborated with the European Molecular Quality Network in an audit of laboratories undertaking molecular diagnosis of WD. The second round of audit in 2007 showed an improvement from 2006.
6. A Best Practice in molecular diagnosis meeting held in Paris, June 2007 was an opportunity to discuss techniques, nomenclature and distinguishing between DNA sequence changes which are disease-causing from those which are benign polymorphisms. Best practice guidelines are being submitted for publication.
7. There were 523 family pedigrees recorded by October 2008. The number of patients satisfying our diagnositic criteria and diagnosed after 1st of January 2005 was 347.
8. The database is yielding information on epidemiology, spectrum of disease, current treatment choices, and frequency of mutations which for the first time gives all-age data for a large population.
9. The apparent incidence is higher in central than in western European countries. This is partly due to the higher prevalence of the most common WD mutation, H1069Q, in Eastern Europe. However even allowing for this genetic difference the incidence is higher in the east. We need to know whether this difference results from better case ascertainment facilitated by a centralised specialist clinical service. These data have important implications for the citing of clinical trials.
10. The mean age of presentation was 20.7 years but cases presented as early 0.2 years and as late as 57.5 years. Those patients homozygous for H1069Q were significantly older than the remainder. Those with neurological features were significantly older at presentation (mean age 26.7 years) than those without (mean 17.6 years). There was no relationship between the age of presentation and the severity of neurological abnormality, or between the age of presentation and the severity of hepatic abnormality.
11. Penicillamine was the commonest initial treatment. Discussion with country coordinators showed that this was due to its availability and relative low cost rather than this being an evidence based clinical decision. In 23 patients a change of drug was documented. The doses used varied widely, being in many cases above or below those recommended.
12. We are learning about early cases of symptomatic Wilson's which has implications concerning treatment in those diagnosed through early screening of established mutations.
13. The RCT group has repeated its literature survey and confirmed that trials remain not only feasible but necessary and justifiable. Two trials are proposed; an RCT of penicillamine versus trientine in patients with neurological disease and an RCT of zinc versus penicillamin in patients with mild hepatic disease. A study of amitryptiline in patients with severe liver disease is under consideration.
14. There has been considerable interest in EuroWilson from outside Europe, resulting in active participation from Croatia, Turkey and India. India and Turkey are entering mostly paediatric cases due to the strong links within paediatrics, and these two countries may be partners in the paediatric trial.
15. EuroWilson is managed from an office in Sheffield, UK, with a Programme Manager based in Paris. There are 5 salaried part-time staff; the Coordinator, consortium members, and SCCs are honorary. An Oversight Committee with strong patient representation oversees the work of the consortium, and has stimulated patient involvement and interaction with other European clinical databases.
16. Communications are maintained by: a monthly Newsflash to SCCs and a quarterly Newsletter to contacts; the website; availability of a Project Officer to answer queries; weekly Skype conferences of the management team; many emails.
17. The public website receives many hits and generates enquiries from patients and clinicians, many of which demonstrate the continuing need for expertise and information about WD.
18. The effort which has been spent in establishing the EuroWilson database, and the data which are now accruing from it, are powerful reasons for continuing the database beyond October 2008. Follow-up data on this well documented cohort will be invaluable.

EuroWilson meeting in the UK

21 March 2007

A meeting was held in London, chaired by Stuart Tanner, with the primary intention of further raising awarness of the EuroWilson project amongst clinical practioners and laboratory services in the UK. This meeting also benefitted from the attendence of reprersentatives of the UK Wilson's Disease Support Group. The capture of UK data is progressing satisfactorily within the paediatric sector. It was generally agreed that more can be done to alert practioners in adult neurology and hepatology, and laboratory genetics services. A number of of actions were agreed to tackle this.

Subjects to be included in the database should be informed individually of data collection and asked to sign a consent form.

June 2005

Download information and consent forms

• English
  • for children
  • for parents
  • for adults

• Francais
  • les jeunes
  • les parents
  • les adultes

• Dutch
  • Voor kinderen
  • Voor ouders van minderjarige patientens
  • Voor volwassenen

• Polish
  • Informacja dla pacjentów pediatrycznych
  • Informacja dla rodziców dziecka
  • Informacja dla pacjenta

• Österreich:
  • Informationsblatt für Junge Leute
  • Informationsblatt für eltern
  • Patienteninfo

If the information and consent forms are not available in your language please contact your nearest SCC or contact@eurowilson.org

Clinical Database

June 2005

The clinical database, to collect information on newly presenting cases is in operation, using a consistent method of patient evaluation, agreed by the consortium. Data entry is via the web, by a Scientific Country Coordinator (SCC), using a secure system by way of a smart card and reader with a sophisticated encryption system. Patients are allocated a unique identification number at initial diagnosis and than followed up on an annual basis.
So far nearly 60 Scientific Country Coordinators (SCC's) have registered on the EuroWilson clinical database.

MREC application and approval

September 2004

The EuroWilson clinical database application for ethical approval was approved. Project reference number 04/MRE04/65. Click on the PDF files to download the application and approval.

EuroWilson_NHS_REC_Application_Form.pdf

MREC reply2.pdf