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

July 11, 2021 updated by: Second Affiliated Hospital, School of Medicine, Zhejiang University
The investigators aimed to identify factors associated with symptoms and features of Wilson disease from a large cohort during long-term follow-up

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Anticipated)

1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • China
    • Zhejiang
      • Hangzhou, Zhejiang, China, 310005
        • Recruiting
        • Second Affiliated Hospital, Zhejiang University School of Medicine

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

6 years to 65 years (ADULT, OLDER_ADULT, CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients with wilson disease

Description

Inclusion Criteria:

  • genetically diagnosed patients with wilson disease

Exclusion Criteria:

  • Deny follow-up

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Wilson's disease cohort
Patients were clinically diagnosed according to the Leipzig Score and included in the study when they were confirmed to carry ATP7B pathogenic variants in 2 different alleles.
Dietary supplement: low copper diet
All patients with wilson disease should receive low copper diet

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Serum ceruloplasmin
Time Frame: From 2004 through 2030
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
Urinary Copper Excretion
Time Frame: From 2004 through 2030
The measurement of 24-hour urine copper excretions were collected and measured.
From 2004 through 2030
Kayser-Fleischer Rings
Time Frame: From 2004 through 2030
The presence of Kayser-Fleischer Rings among patients with wilson disease were confirmed via slit lamp.
From 2004 through 2030
Brain Magnetic Resonance Imaging
Time Frame: From 2004 through 2030
Brain Magnetic Resonance Imaging of all patients were collected and analyzed.
From 2004 through 2030

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Second Affiliated Hospital, School of Medicine, Zhejiang University

Investigators

  • Principal Investigator: Zhi-Ying Wu, Second Affiliated Hospital, Zhejiang University School of Medicine

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

January 1, 2004

Primary Completion (ANTICIPATED)

December 1, 2025

Study Completion (ANTICIPATED)

January 1, 2030

Study Registration Dates

First Submitted

July 5, 2021

First Submitted That Met QC Criteria

July 11, 2021

First Posted (ACTUAL)

July 16, 2021

Study Record Updates

Last Update Posted (ACTUAL)

July 16, 2021

Last Update Submitted That Met QC Criteria

July 11, 2021

Last Verified

July 1, 2021

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • WD-Biochemical assays

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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