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

Wilson Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04965545
• Other study ID #: WD-Biochemical assays
• Status: Recruiting
• Start date: January 1, 2004
• Est. completion date: January 1, 2030

Study information

• Verified date: July 2021
• Source: Second Affiliated Hospital, School of Medicine, Zhejiang University
• Contact: Yi Dong, Ph.D.
• Phone: +8618367129345
• Email: dongyi720[@]zju.edu.cn
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1000
• Est. completion date: January 1, 2030
• Est. primary completion date: December 1, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 6 Years to 65 Years

Eligibility

Inclusion Criteria:

• genetically diagnosed patients with wilson disease

Exclusion Criteria:

• Deny follow-up

Related Conditions & MeSH terms

• Wilson Disease

Intervention

Dietary Supplement:
• low copper diet
All patients with wilson disease should receive low copper diet

Locations

Country	Name	City	State
China	Second Affiliated Hospital, Zhejiang University School of Medicine	Hangzhou	Zhejiang

Sponsors (1)

Lead Sponsor	Collaborator
Second Affiliated Hospital, School of Medicine, Zhejiang University

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Serum ceruloplasmin	Serum ceruloplasmin levels were collected among patients with wilson disease. After confirming a non-Gaussian distribution, the reference range of serum ceruloplasmin level was determined.	From 2004 through 2030
Primary	Urinary Copper Excretion	The measurement of 24-hour urine copper excretions were collected and measured.	From 2004 through 2030
Primary	Kayser-Fleischer Rings	The presence of Kayser-Fleischer Rings among patients with wilson disease were confirmed via slit lamp.	From 2004 through 2030
Primary	Brain Magnetic Resonance Imaging	Brain Magnetic Resonance Imaging of all patients were collected and analyzed.	From 2004 through 2030