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

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Brief Title

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

Official Title

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

Brief Summary

      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.
    


Study Type

Observational


Primary Outcome

Serum ceruloplasmin


Condition

Wilson Disease

Intervention

low copper diet

Study Arms / Comparison Groups

 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.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Dietary Supplement

Estimated Enrollment

1000

Start Date

January 1, 2004

Completion Date

January 1, 2030

Primary Completion Date

December 1, 2025

Eligibility Criteria

        Inclusion Criteria:

          -  genetically diagnosed patients with wilson disease

        Exclusion Criteria:

          -  Deny follow-up
      

Gender

All

Ages

6 Years - 65 Years

Accepts Healthy Volunteers

No

Contacts

Zhi-Ying Wu, +8618367129345, [email protected]

Location Countries

China

Location Countries

China

Administrative Informations


NCT ID

NCT04965545

Organization ID

WD-Biochemical assays


Responsible Party

Sponsor

Study Sponsor

Second Affiliated Hospital, School of Medicine, Zhejiang University


Study Sponsor

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


Verification Date

July 2021