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

NCT ID: NCT04965545

Last Updated: 2021-07-16

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

1000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2004-01-01

Study Completion Date

2030-01-01

Brief Summary

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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

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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.

Conditions

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Wilson Disease

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

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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.

low copper diet

Intervention Type DIETARY_SUPPLEMENT

All patients with wilson disease should receive low copper diet

Interventions

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low copper diet

All patients with wilson disease should receive low copper diet

Intervention Type DIETARY_SUPPLEMENT

Eligibility Criteria

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Inclusion Criteria

* genetically diagnosed patients with wilson disease

Exclusion Criteria

* Deny follow-up
Minimum Eligible Age

6 Years

Maximum Eligible Age

65 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Second Affiliated Hospital, School of Medicine, Zhejiang University

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Zhi-Ying Wu

Role: PRINCIPAL_INVESTIGATOR

Second Affiliated Hospital, Zhejiang University School of Medicine

Locations

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Second Affiliated Hospital, Zhejiang University School of Medicine

Hangzhou, Zhejiang, China

Site Status RECRUITING

Countries

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China

Central Contacts

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Yi Dong, Ph.D.

Role: CONTACT

+8618367129345

Facility Contacts

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Yi Dong

Role: primary

Other Identifiers

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WD-Biochemical assays

Identifier Type: -

Identifier Source: org_study_id

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