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

Objective

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.

Call for proposal

FP6-2002-LIFESCIHEALTH
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Funding Scheme

CA - Coordination action

Coordinator

UNIVERSITY OF SHEFFIELD
Address
Firth Court, Western Bank
Sheffield
United Kingdom

Participants (15)

INSTITUTE OF PSYCHIATRY AND NEUROLOGY
Poland
Address
Sobieskiego 9
Warsaw
THE CHILDREN'S MEMORIAL HEALTH INSTITUTE
Poland
Address
Ai. Dzieci Polskich 20
Warsaw
SEMMELWEIS UNIVERSITY
Hungary
Address
Bókay János Utca 53.
Budapest
MEDICAL UNIVERSITY OF VIENNA, DEPT. INTERNAL MEDICINE IV
Austria
Address
Akh Wien, Währinger Gürtel 18-20
Vienna
MEDIZINISCHE UNIVERSITAT GRAZ (MEDICAL UNIVERSITY OF GRAZ)
Austria
Address
Auenbruggerplatz 2
Graz
DEPARTMENT OF PEDIATRICS, UNIVERSITY "FEDERICO II" NAPLES
Italy
Address
Via Segio Pansini N.5
Naples
UNIVERSITY OF CAGLIARI
Italy
Address
Via Universita' 40
Cagliari
CHARITE-UNIVERSITATSMEDIZIN BERLIN
Germany
Address
Schumannstrasse 20-21
Berlin
HANNOVER MEDICAL SCHOOL
Germany
Address
Carl-neuberg-strasse 1
Hannover
UNIVERSITY MEDICAL CENTER UTRECHT
Netherlands
UNIVERSITE JOSEPH FOURIER GRENOBLE 1
France
Address
621 Avenue Centrale
Grenoble
ORPHAN EUROPE SARL
France
Address
70 Avenue Du General De Gaulle
Paris-la Defense
UNIVERSITE DE LA MEDITERRANEE
France
Address
27 Boulevard Jean-moulin
Marseille
KINGS COLLEGE LONDON
United Kingdom
Address
Strand
London
HC FORUM
France
Address
7 Chemin De La Dhuy
Neylan