Natural History of Wilson Disease | NCT03334292

Studies
Natural History of Wilson Disease

NCT03334292

Sponsor

Yale University

Status

Recruiting

Last Update Posted

Jun 22, 2026Actual

Enrollment

300Estimated

Phase

Not provided

Conditions

Wilson Disease

Interventions

Not provided

Countries

United States
Germany
United Kingdom

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Jun 2026

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Dec 18, 2017Actual

Primary Completion Date

Nov 15, 2029Estimated

Completion Date

Nov 15, 2029Estimated

First Submitted Date

Oct 31, 2017

First Submission Date that Met QC Criteria

Nov 2, 2017

First Posted Date

Nov 7, 2017Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jun 17, 2026

Last Update Posted Date

Jun 22, 2026Actual

Name	Class
Wilson Disease Association	UNKNOWN

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Detailed Description

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Yes

Target Follow-Up Duration

5 Years

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

300Estimated

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

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.

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Ricarda Tomlin	Contact	(203) 785-2073		ricarda.tomlin@yale.edu
Sefa Keserci, PhD	Contact	(203) 3766043		sefa.keserci@yale.edu

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Yale University	Recruiting	New Haven	Connecticut	06520	United States

Condition Browse Module

MeSH Terms

ID	Term
D006527	Hepatolenticular Degeneration

Ancestor Terms

ID	Term
D008107	Liver Diseases
D004066	Digestive System Diseases
D001480	Basal Ganglia Diseases
D001927	Brain Diseases

Browse Leaves

Not provided

Browse Branches

Not provided

Description

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.