Community Research and Development Information Service - CORDIS


EUROWILSON — Result In Brief

Project ID: 503430

Monitoring Wilson's, a rare genetic disease

Wilson’s Disease is a rare inherited disorder in which copper accumulates in tissues. EU-funded researchers established a database of reported cases that should facilitate long-term monitoring and more effective diagnosis and treatment.
Monitoring Wilson's, a rare genetic disease
With time, high copper levels can cause life-threatening organ damage particularly to the liver and central nervous system. Symptoms typically occur between the ages of 5 and 35 but new cases have been reported in people between 2 and 72 years of age.

Although Wilson’s is a very treatable disease, dilemmas remain. Lack of early diagnosis can lead to irreversible organ damage. Long-term treatment outcomes remain uncertain.

European researchers identified a lack of randomised controlled clinical trials (RCTs), a broad spectrum of treatment choices among clinicians and uncertainty concerning optimal treatment.

The scientists initiated the Eurowilson project in order to collect data on incidence, prevalence of sub-types, treatments and short-term outcomes regarding Wilson’s Disease. The data would be used to create a European Clinical Database and to design and execute RCTs.

First, symptoms were classified. Liver symptoms were relatively straightforward whereas those related to central nervous system dysfunction were trickier. To overcome this issue, a neurological rating scale was devised and a DVD prepared demonstrating physical signs and degrees of severity.

Diagnostic criteria were established and algorithms created to validate data entered securely to the database via a web-based platform. Cases that did not meet diagnostic criteria were reviewed. Correspondence was then exchanged with the examining clinician suggesting further investigation.

The EU database was linked to the French national rare disease plan via a translated version of the Eurowilson database to avoid duplication. Planned future expansion includes links to pharmaceutical-related databases such as the European Medicines Agency (EMA). Cooperation enabling access to important information on the course of the disease may be beneficial in assessment of drug safety and efficacy.

Eurowilson, in its goal to design and execute RCTs, created an international database of symptoms, treatments and case information regarding Wilson’s Disease. Continued use and analysis should provide important information about the treatments and related long-term outlooks for Wilson’s Disease with the goal of fast diagnoses, better therapies and enhanced quality of life.

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