RWE Study of Subjects With Wilson's Disease to Assess Clinical Utility of Measuring Copper Parameters, Including a Novel Non-ceruloplasmin Bound Copper Assay Based on Copper Protein Speciation (NCC-Sp), Standard of Care Clinical and Biochemical Assessments

This is a non-interventional RWE study to describe NCC-Sp in relation to standard of care (SoC) copper measurements at each visit and longitudinally over an approximate 12-month study period in WD patients.

Data will be collected during routinely scheduled WD clinic visits over an approximate 12-month period.

Data collected will include:

• Relevant medical history and WD medication history
• All copper measurements and SoC clinical laboratory results prior to changing therapy/study enrolment, and if available, for up to 2 years prior to baseline
• Concomitant medications at the time of study enrollment and if available, for up to 2 years prior to baseline.
• Routine blood sample results from SoC assessments including biochemistry, hematology and coagulation measures, copper assessments (including serum ceruloplasmin and total copper alongside a locally calculated estimation of NCC).
• Around the same time as the routine blood samples, an additional study specific study blood samples of up to 10 mL will be collected for analysis of the NCC-Sp, serum total copper and serum ceruloplasmin, copper fraction associated with ceruloplasmin and serum zinc levels. Samples will be sent for analysis at the nominated central laboratory. Results will only be made available to investigators at the end of the study. Central laboratory samples taken for the study may be kept for up to 5 years for additional testing (metal analyses).
• Routine 24-hour urinary copper excretion (µmol/l) collection may form part of the SoC assessments conducted during regularly planned visits. This sample will be analyzed as per standard practice by the local laboratory.
• Calculated New Wilson's Disease Index and WD medications, and other testing as collected during routinely scheduled WD clinic visits and analyzed as per local hospital procedures and facilities.

After providing informed consent, patients meeting all inclusion and no exclusion criteria will be enrolled into the study. Patient's routine WD clinic visits will be scheduled according to the standard clinical practice at the study center and at the discretion of the treating physician. Enrolled patients are to be followed for approximately 12 months; first visit will be recorded as the baseline visit. If a switch of therapy is made, patients are typically re-assessed within a window of approximately 1- 3 months post initiation of the new treatment with biochemical testing and in person consultation for some. In the absence of starting a new treatment, patients are reviewed at approximately 6-month intervals, i.e., SoC visits at 6 months and 12 months. Routine chemistry, hematology, coagulation, copper assessments, 24h urine sampling for urinary copper excretion and other laboratory testing used to assess the patient as part of SoC will be performed as usual by the site local laboratory as determined by the treating physician per their standard practice for managing patients with WD. Routine safety testing and the required laboratory values produced by the local laboratory will be used to calculate the New Wilson's Disease Index.