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

NCT04965545 | Recruiting

• 1 other identifier: WD-Biochemical assays
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

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

Conditions

Wilson Disease

Outcome Measures

Primary Outcomes (4)

• Serum ceruloplasmin

  Serum ceruloplasmin levels were collected among patients with wilson disease. After confirming a non-Gaussian distribution, the reference range of serum ceruloplasmin level was determined.

  From 2004 through 2030

• Urinary Copper Excretion

  The measurement of 24-hour urine copper excretions were collected and measured.

  From 2004 through 2030

• Kayser-Fleischer Rings

  The presence of Kayser-Fleischer Rings among patients with wilson disease were confirmed via slit lamp.

  From 2004 through 2030

• Brain Magnetic Resonance Imaging

  Brain Magnetic Resonance Imaging of all patients were collected and analyzed.

  From 2004 through 2030

Study Arms (1)

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.

Dietary Supplement: low copper diet

Interventions

low copper diet DIETARY_SUPPLEMENT

All patients with wilson disease should receive low copper diet

Wilson's disease cohort

Eligibility Criteria

• Age: 6 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with wilson disease

You may qualify if:

• genetically diagnosed patients with wilson disease

You may not qualify if:

• Deny follow-up

Sponsors & Collaborators

• Second Affiliated Hospital, School of Medicine, Zhejiang University: lead

Study Sites (1)

Second Affiliated Hospital, Zhejiang University School of Medicine

Hangzhou, Zhejiang, 310005, China

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

This study was approved by the ethics committees of the local hospitals. After obtaining informed consent from the affected individuals or legal guardians, genetic DNA were collected and reserved.

MeSH Terms

Conditions

Hepatolenticular Degeneration

Condition Hierarchy (Ancestors)

Liver Diseases; Digestive System Diseases; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Movement Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Zhi-Ying Wu

  Second Affiliated Hospital, Zhejiang University School of Medicine

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Yi Dong, Ph.D.

CONTACT

+8618367129345; dongyi720@zju.edu.cn

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 5, 2021
• First Posted: July 16, 2021
• Study Start: January 1, 2004
• Primary Completion: December 1, 2025
• Study Completion (Estimated): January 1, 2030
• Last Updated: July 16, 2021

Record last verified: 2021-07

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)