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

Last updated: July 11, 2021
Sponsor: Second Affiliated Hospital, School of Medicine, Zhejiang University
Overall Status: Active - Recruiting

Phase

N/A

Condition

Kidney Failure

Liver Disease

Wilson's Disease

Treatment

N/A

Clinical Study ID

NCT04965545
WD-Biochemical assays
  • Ages 6-65
  • All Genders

Study Summary

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

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • genetically diagnosed patients with wilson disease

Exclusion

Exclusion Criteria:

  • Deny follow-up

Study Design

Total Participants: 1000
Study Start date:
January 01, 2004
Estimated Completion Date:
January 01, 2030

Study 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.

Connect with a study center

  • Second Affiliated Hospital, Zhejiang University School of Medicine

    Hangzhou, Zhejiang 310005
    China

    Active - Recruiting

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