Natural History of Wilson Disease

The purpose of the registry/repository is to provide a mechanism to store data and specimens to support the conduct of future research about Wilson disease (WD). The overall aim is to determine the optimal testing for diagnosis and parameters for monitoring treatment of WD that will aid product utilization and development.

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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

Sex eligibility

All sexes

Study type

Observational

Primary location

Universitätsklinikum Heidelberg, Heidelberg, Germany

About this study

There are three aims outlined as part of this research study.

Aim 1 is to study the natural history of a carefully characterized cohort of patients with WD followed longitudinally at Centers of Excellence for WD in the United States and in the United Kingdom.

Aim 2 seeks to evaluate parameters for diagnosis and treatment monitoring for patients on chelation therapy and zinc treatment for their WD. Data gathered in Specific aim 1 will be used for analyzing the components of the diagnostic scores for patients.

Aim 3 is intended to determine whether a composite index or a biomarker can be used as surrogate marker for treatment monitoring for current patients on therapy that can be used for future patient treatment trials.

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

Known diagnosis of WD
Able and willing to provide informed consent for adults (Parental/guardian permission (informed consent) and if appropriate, child assent for participants <18 (or per local Institutional Review Board (IRB) regulation)

Exclusion criteria

Diagnosis of WD has been excluded
Unwilling to provide informed consent or assent

Treatment and study plan

Primary outcomes

Create registry for Wilson disease

Time frame: 5 Years

This outcome is a binary 'yes/no' outcome as to whether or not this study can successfully create a repository with the intent to store data and specimens to support the conduct of future research on Wilson disease.

Study contacts

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

Ricarda Tomlin

CONTACT

[email protected]

(203) 785-2073

Sefa Keserci, PhD

CONTACT

[email protected]

(203) 3766043

Sponsors and collaborators

Lead sponsor

Yale University

Other

Collaborators

Wilson Disease Association

Registry information

Official study title

Natural History of Wilson Disease: Registry for Patients With Wilson Disease

Important dates

Study start: 2017
Primary completion: 2029
Study completion: 2029
First posted: Nov 7, 2017
Registry last updated: Jun 22, 2026

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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Recruiting