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NCT Number: NCT04965545

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

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

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Key information

Conditions

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

Age range

6 year–65 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Second Affiliated Hospital, Zhejiang University School of Medicine

Hangzhou, Zhejiang, 310005, China

Location status: Recruiting

Location contact

Yi Dong

CONTACT

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • genetically diagnosed patients with wilson disease

Exclusion criteria

  • Deny follow-up

Treatment and study plan

low copper diet

Dietary Supplement

All patients with wilson disease should receive low copper diet

Primary outcomes

  1. Serum ceruloplasmin

    Time frame: From 2004 through 2030

    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.

  2. Urinary Copper Excretion

    Time frame: From 2004 through 2030

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

  3. Kayser-Fleischer Rings

    Time frame: From 2004 through 2030

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

  4. Brain Magnetic Resonance Imaging

    Time frame: From 2004 through 2030

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

Study contacts

Contact information is provided by the study sponsor or research team.

Yi Dong, Ph.D.

CONTACT

[email protected]

+8618367129345

Sponsors and collaborators

Lead sponsor

Second Affiliated Hospital, School of Medicine, Zhejiang University

Other

Registry information

Important dates

Study start
2004
Primary completion
2025
Study completion
2030
First posted
Jul 16, 2021
Registry last updated
Jul 16, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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