Mayo Clinic Conducts Pediatric Screening for Wilson's Disease

Friday, June 04, 2004

ROCHESTER, Minn. — Mayo Clinic seeks normal healthy children and young adults between the ages of 3 months and 18 years for a research study to determine the effectiveness of a new pediatric screening method for Wilson's disease.

Wilson's disease results from the body's inability to remove excess copper, causing liver failure, severe brain damage and death. Usually, individuals who have Wilson's disease are diagnosed after serious liver dysfunction occurs. A liver transplant is often necessary.

Wilson's disease is an inherited disorder affecting approximately 1 in 30,000 people worldwide. However, scientists believe Wilson's disease may actually occur more frequently. Wilson's disease may be the most frequent and most preventable cause of chronic liver disease in children. A combination of oral medications and dietary changes is used to treat Wilson's disease. Life long treatment is necessary to maintain good health. Dietary changes require avoidance of foods, such as shellfish, which contains high amounts of copper. The goal of pediatric screening is to identify affected individuals and begin treatment prior to the onset of life-threatening symptoms.

Screening begins with a blood sample collected from the child's finger collected on a filter paper card. The blood test measures a blood protein called ceruloplasmin. If ceruloplasmin concentration is low, the result is considered abnormal and laboratory tests are done as part of the study to confirm or rule out Wilson's disease.

Potential risks associated with participation in this research study include: increased anxiety regarding abnormal test results and financial burden of follow-up testing for positive results. Additionally, there may be the potential for insurance discrimination should molecular genetic testing be offered to a participant who has abnormal test results.

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