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.

Full Title of Study: “Natural History of Wilson Disease: Registry for Patients With Wilson Disease”

Study Type

  • Study Type: Observational [Patient Registry]
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: November 15, 2022

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.

Clinical Trial Outcome Measures

Primary Measures

  • 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.

Participating in This Clinical Trial

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 IRB regulation) Exclusion Criteria:
  • Diagnosis of WD has been excluded – Unwilling to provide informed consent or assent
  • Gender Eligibility: All

    Minimum Age: N/A

    Maximum Age: N/A

    Are Healthy Volunteers Accepted: No

    Investigator Details

    • Lead Sponsor
      • Yale University
    • Provider of Information About this Clinical Study
      • Sponsor
    • Overall Contact(s)
      • Ricarda Tomlin, (203) 785-2073,

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