Clinical Evaluation and Assessment of Instruments and Biomarkers in Subjects With Wilson Disease
Clinical Evaluation and Assessment of Instruments and Biomarkers in Subjects With Wilson Disease
The primary objective of the study is to determine the relevance and appropriateness of
 outcome assessments, including biomarkers, within the Wilson disease population to inform
 study design and endpoint selection for future clinical studies.
Given the limited information on the frequency and spectrum of disease manifestations and
 clinical course of Wilson disease, the UX701-CL001 study aims to assess the utility and
 feasibility of various assessments and biomarkers to inform endpoint selection for future
 clinical studies, better understand the relationship between biomarkers and potential
 clinical outcomes, and characterize the clinical presentation of Wilson disease. UX701-CL001
 is a clinical survey study. Subjects will complete assessments at the study site and at home
 to evaluate the clinical manifestations of Wilson disease in clinical and real-world
 environments.
Inclusion Criteria:

 1. Male or female ≥ 12 years of age at the time written informed consent is provided.

 2. Confirmed diagnosis of Wilson disease.

 3. Have a documented history of copper chelator (ie, penicillamine, trientine) and/or
 zinc therapy or be ≥ 1 year post liver transplant with no active associated
 complications.

 4. Willing and able to comply with all study procedures and requirements. If < 18 years
 of age (or as required by region), have a caregiver who is willing and able to assist
 with study requirements if needed.

 5. Willing and able to provide written informed consent after the study has been
 explained and before any study-related data are collected or study-related procedures
 are performed. If < 18 years of age (or as required by region), willing and able to
 provide written assent and have a legally authorized representative who is willing and
 able to provide written informed consent after the study has been explained and before
 any study-related data are collected or study-related procedures are performed.

 Exclusion Criteria:

 1. History of liver disease due to a medical condition unrelated to Wilson disease.

 2. Liver fibrosis stage F3 or F4.

 3. Decompensated hepatic cirrhosis and/or evidence of portal hypertension.

 4. Marked neurological disease requiring either nasogastric feeding or intensive
 inpatient medical care.

 5. Female subject who is pregnant or breastfeeding or who plans to become pregnant at any
 time during the study.

 6. Female subject of childbearing potential who has a positive urine pregnancy test on
 Day 1 or is unwilling to have additional pregnancy tests during the study.

 7. Current or previous participation in a gene transfer study.

 8. Presence or history of any disease or condition that, in the Investigator's opinion,
 would interfere with the subject's safety or ability to participate in the study or
 significantly affect interpretation of study results.