Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: low copper diet.
- Who it may be relevant to
- Registry conditions: Wilson Disease. Basic parameters: 6 years — 65 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- China
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Interventions
- Dietary supplement low copper diet
All patients with wilson disease should receive low copper diet
Primary outcome measures
- Serum ceruloplasmin [Time frame: From 2004 through 2030]
- Urinary Copper Excretion [Time frame: From 2004 through 2030]
- Kayser-Fleischer Rings [Time frame: From 2004 through 2030]
- Brain Magnetic Resonance Imaging [Time frame: From 2004 through 2030]
Eligibility criteria
Inclusion criteria
- genetically diagnosed patients with wilson disease
Exclusion criteria
- Deny follow-up
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
China · 1 center
- Second Affiliated Hospital, Zhejiang University School of Medicine — Hangzhou
Identifiers
NCT: NCT04965545 · WD-Biochemical assays