Objectif
Wilson Disease (OMIM#277900; http://www.pedihepa.org/wilson.htm;) 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 1/30,000 to 1/100 000. 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 or 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 Gastroenterology, 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 soft ware, 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.
Champ scientifique
- medical and health sciencesbasic medicinepharmacology and pharmacydrug safety
- natural sciencescomputer and information sciencesdatabases
- medical and health sciencesbasic medicinepharmacology and pharmacypharmaceutical drugs
- medical and health sciencesclinical medicinenephrology
- medical and health sciencesmedical biotechnologytissue engineeringbioartificial liver
Mots‑clés
Thème(s)
Appel à propositions
FP6-2002-LIFESCIHEALTH
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Régime de financement
CA - Coordination actionCoordinateur
SHEFFIELD
Royaume-Uni