Natural History of Wilson Disease

NCT03334292 | Recruiting

• 1 other identifier: 1609018429
• Study Type: observational
• Target: 300
• Locations: 3 countries
• Sites: 6

Brief Summary

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.

Conditions

Wilson Disease

Keywords

Wilson Disease

Outcome Measures

Primary Outcomes (1)

• Create registry for Wilson disease

  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.

  5 Years

Eligibility Criteria

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

Study Population

Adult and pediatric patients being evaluated for or with a diagnosis of WD who are willing to participate in the registry at designated study sites around the United States and in the United Kingdom.

You may qualify if:

• 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)

You may not qualify if:

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

Sponsors & Collaborators

• Yale University: lead
• Wilson Disease Association: collaborator

Study Sites (6)

Yale University

New Haven, Connecticut, 06520, United States

RECRUITING

Advent Health

Orlando, Florida, 32803, United States

RECRUITING

Baylor College of Medicine

Houston, Texas, 77030, United States

RECRUITING

Seattle Children's Hospital

Seattle, Washington, 98105, United States

RECRUITING

Universitätsklinikum Heidelberg

Heidelberg, 69120, Germany

RECRUITING

Royal Surrey Country Hospital

Guildford, Surrey, GU2, United Kingdom

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Data will be collected prospectively from standard of care assessments as well as study specific assessments and entered into a central database. Some retrospective data in regards to the treatment for Wilson Disease prior to enrollment will be collected as well, if available from the medical record.

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

Central Study Contacts

Ricarda Tomlin

CONTACT

(203) 785-2073; ricarda.tomlin@yale.edu

Sefa Keserci, PhD

CONTACT

(203) 3766043; sefa.keserci@yale.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 31, 2017
• First Posted: November 7, 2017
• Study Start: December 18, 2017
• Primary Completion (Estimated): November 15, 2029
• Study Completion (Estimated): November 15, 2029
• Last Updated: May 22, 2025

Record last verified: 2025-05

Locations

US (4); DE (1); GB (1)