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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.
- Local Subprojectlead:
- Deutsch Johann
- Duration:
- 01.06.2004-31.08.2008
- Programme:
- EU (FP-6)
- EU-Project Instruments
- Coordination Action (CA)
- Type of Research
- applied research
- Staff
- Deutsch, Johann, Project Leader
- MUG Research Units
- Department of Paediatrics and Adolescent Medicine, Joint Facilities
- Project partners
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Charite-Universitätsmedizin Berlin, Germany
Contact person: Hartmut Schmidt; -
Hannover Medical School, Germany
Contact person: Michael Melter; -
Hopital d'Enfants de la Timone, Marseille, France
Contact person: Jacques Sarles; -
Institute of Psychiatry and Neurology, Warsaw, Poland
Contact person: Anna Czlonkowska; -
King's College London, United Kingdom
Contact person: Anil Dhawan; -
Orphan Europe, Paris, France
Contact person: Samantha Parker; -
Semmelweis University Budapest, Hungary
Contact person: Lazlo Sonyi; -
The Children's Memorial Healty Institute, Warsaw, Poland
Contact person: Poitr Socha; -
Université Joseph Fourier Grenoble, France
Contact person: Olivier Cohen; -
University Medical Center Utrecht, Netherlands
Contact person: Roderick Houwen; -
University of Cagliari, Italy
Contact person: Giorgios Loudianos; -
University of Naples "Federico II", Italy
Contact person: Angela Vegnente; -
University of Sheffield, United Kingdom
Contact person: Stuart Tanner; -
Univ.Klinik Innere Medizin Wien/Medizinische Universität Wien, Austria
Contact person: Peter Ferenci;