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

Zhejiang University

Status: Enrolling

Conditions: Wilson Disease

Treatments: Dietary Supplement: low copper diet

Study type: Observational

Funder types: Other

Identifiers

NCT04965545

WD-Biochemical assays

Details and patient eligibility

About

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

Full 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.

Enrollment: 1,000 estimated patients

Sex: All

Ages: 6 to 65 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• genetically diagnosed patients with wilson disease

Exclusion criteria

• Deny follow-up

Trial design

1,000 participants in 1 patient group

Wilson's disease cohort

Description:

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.

Treatment:

Dietary Supplement: low copper diet