Natural History of Wilson Disease

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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03334292

Enrollment

300

Registered

2017-11-07

Start date

2017-12-18

Completion date

2029-11-15

Last updated

2026-06-22

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Wilson Disease

Keywords

Wilson Disease, Copper

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Create registry for Wilson disease	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.

Countries

Germany, United Kingdom, United States

Contacts

CONTACTRicarda Tomlin

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

CONTACTSefa Keserci, PhD

sefa.keserci@yale.edu(203) 3766043

Outcome results