Actively Recruiting
Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease
Led by Second Affiliated Hospital, School of Medicine, Zhejiang University · Updated on 2021-07-16
1000
Participants Needed
1
Research Sites
213 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Wilson disease is a genetic disorder that affects copper balance in the body due to mutations in the ATP7B gene. This condition can cause a wide range of symptoms and varied laboratory test results, making diagnosis challenging. Researchers are studying factors linked to symptoms and clinical features of Wilson disease in a large group of patients over a long time to improve timely diagnosis. All patients in the study have a confirmed genetic diagnosis of Wilson disease based on specific ATP7B mutations and clinical criteria. They are advised to follow a low copper diet as part of the management. The study observes patients over many years, from 2004 to 2030, to track disease markers and symptoms. Participants undergo regular assessments including serum ceruloplasmin levels, urinary copper excretion, checks for Kayser-Fleischer rings in the eyes, and brain MRI scans. The researchers collect this data throughout the study period to understand disease progression and diagnostic indicators. The total participation spans many years, allowing detailed long-term follow-up and monitoring by the research team.
CONDITIONS
Brief Title
Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Genetically diagnosed patients with Wilson disease
- Age between 6 and 65 years
- Willingness to participate in long-term follow-up
You will not qualify if you...
- Decline to participate in follow-up
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - From 2004 through 2030
Participants who have been diagnosed with Wilson disease are observed over time with biochemical assays and assessments of Kayser-Fleischer rings to help provide timely diagnosis and monitor disease progression.
Regular assessments during follow-up visits
Trial Site Locations
Total: 1 location
1
Second Affiliated Hospital, Zhejiang University School of Medicine
Hangzhou, Zhejiang, China, 310005
Actively Recruiting
Research Team
Y
Yi Dong, Ph.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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