NCT04965545

Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 1,000 (estimated)
• Sponsor: Second Affiliated Hospital, School of Medicine, Zhejiang University · Academic / Other
• Sex: All
• Age: 6 Years – 65 Years
• Healthy volunteers: Not accepted

Summary

The investigators aimed to identify factors associated with symptoms and features of Wilson disease from a large cohort during long-term follow-up

Detailed description

Wilson disease is an autosomal recessive disorder that impairs copper homeostasis and is caused by homozygous or compound heterozygous mutations in ATP7B, which encodes a copper-transporting P-type ATPase. Patients have variable clinical manifestations and laboratory test results, resulting in diagnostic dilemmas. Therefore, the investigators aimed to identify factors associated with symptoms and features of Wilson disease, thereby give timely diagnosis for patients.

Conditions

• Wilson Disease

Interventions

Type	Name	Description
DIETARY_SUPPLEMENT	low copper diet	All patients with wilson disease should receive low copper diet

Timeline

• Start date: 2004-01-01
• Primary completion: 2025-12-01
• Completion: 2030-01-01
• First posted: 2021-07-16
• Last updated: 2021-07-16

Locations

1 site across 1 country: China