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Wilson Disease: Creating a European Clinical Database and designing randomised controlled clinical trials

Abstract
Wilson disease is an autosomal recessive disorder in which deficiency of a copper-transporting trans-golgi P-type ATPase leads to intracellular retention of copper and hence hepatic, neurological & renal disease. Incidence estimates vary from 1:30000 to 1:100000. Mutation identification aids early diagnosis. Although there is encouraging single centre experience with copper-chelators (BAL in early work, now penicillamine or trientine), zinc sulfate of acetate, or ammonium tetrathiomolybdate, treatment dilemmas remain. We do not know how to treat pre-symptomatically diagnosed infants. There is a lack of randomised controlled clinical trials (RCTs). Initial neurological deterioration on starting treatment may not be reversible. Long term outlook is uncertain. A small survey of clinicians revealed wide differences in treatment choices and lack of certainty about optimum treatment. A Cochrane-style literature review found virtually no Level I evidence. A multicentre stratified RCT is necessary. In 2002 the European Society of Paediatric Gastroeneterology, Hepatology and Nutrition established a working group of paediatric and adult hepatologists and neurologists with representation from the European Society for the Study of the Liver and the Movement Disorder Society. This has concluded that mounting an RCT is not possible without data on the incidence, prevalence of sub-types, current treatments, and short term outcomes. The consortium wishes to establish a European Clinical Database, data from which will inform the process of setting up an RCT. Preliminary work has addressed diagnostic criteria, database items, choice of software, database host, and secure access. The aims of the project are to set up the database, collect and analyse 1 year's data, set up an RCT planning group and workshop, and to continue data collection and patient monitoring for 4 years.
Lokale Teilprojektleitung:
Deutsch Johann
Laufzeit:
01.06.2004-31.08.2008
Programm:
EU (FP-6)
EU-Projektinstrument
Coordination Action (CA)
Art der Forschung
Angewandte Forschung
Mitarbeiter*innen
Deutsch, Johann, Projektleiter*in
Beteiligte MUG-Organisationseinheiten
Universitätsklinik für Kinder- und Jugendheilkunde - ohne Abteilungszuordnung
Projektpartner
Charite-Universitätsmedizin Berlin, Deutschland
Kontaktperson: Hartmut Schmidt;
Hannover Medical School, Deutschland
Kontaktperson: Michael Melter;
Hopital d'Enfants de la Timone, Marseille, Frankreich
Kontaktperson: Jacques Sarles;
Institute of Psychiatry and Neurology, Warsaw, Polen
Kontaktperson: Anna Czlonkowska;
King's College London, Großbritannien
Kontaktperson: Anil Dhawan;
Orphan Europe, Paris, Frankreich
Kontaktperson: Samantha Parker;
Semmelweis University Budapest, Ungarn
Kontaktperson: Lazlo Sonyi;
The Children's Memorial Healty Institute, Warsaw, Polen
Kontaktperson: Poitr Socha;
Universitätsklinik Innere Medizin Wien/Medizinische Universität Wien, Österreich
Kontaktperson: Peter Ferenci;
Université Joseph Fourier Grenoble, Frankreich
Kontaktperson: Olivier Cohen;
University Medical Center Utrecht, Niederlande
Kontaktperson: Roderick Houwen;
University of Cagliari, Italien
Kontaktperson: Giorgios Loudianos;
University of Naples "Federico II", Italien
Kontaktperson: Angela Vegnente;
University of Sheffield, Großbritannien
Kontaktperson: Stuart Tanner;
Gefördert durch
Europäische Kommission, Rue de la Loi, Brussels, Belgien
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