Natural History of Wilson Disease
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.
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.
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