Clinical Evaluation and Assessment of Instruments and Biomarkers in Subjects With Wilson Disease
1 other identifier
observational
16
2 countries
6
Brief Summary
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for all trials
Started Dec 2020
6 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
July 27, 2020
CompletedFirst Posted
Study publicly available on registry
August 28, 2020
CompletedStudy Start
First participant enrolled
December 11, 2020
CompletedPrimary Completion
Last participant's last visit for primary outcome
March 25, 2022
CompletedStudy Completion
Last participant's last visit for all outcomes
March 25, 2022
CompletedApril 29, 2022
April 1, 2022
1.3 years
July 27, 2020
April 28, 2022
Conditions
Outcome Measures
Primary Outcomes (8)
Clinical manifestation of Wilson Disease under study: demographics
30 days
Clinical manifestation of Wilson Disease under study: general medical history, Wilson Disease history and treatments
30 days
Clinical manifestation of Wilson Disease under study: patient reported outcomes and clinician reported outcomes
30 days
Clinical manifestation of Wilson Disease under study: activity monitoring
30 days
Clinical manifestation of Wilson Disease under study: motor function
30 days
Clinical manifestation of Wilson Disease under study: joint pain
30 days
Clinical manifestation of Wilson Disease under study: serum copper biomarker assessments
30 days
Clinical manifestation of Wilson Disease under study: 24-hour urinary copper concentration
30 days
Eligibility Criteria
Subjects with a confirmed diagnosis of Wilson Disease will be enrolled from outpatient clinics and metabolic genetic centers in the United States. Subjects may participate regardless of their current treatment. Subjects who have had a liver transplant for treatment of Wilson Disease are also invited to participate.
You may qualify if:
- Male or female ≥ 12 years of age at the time written informed consent is provided.
- Confirmed diagnosis of Wilson disease.
- 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.
- 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.
- 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.
You may not qualify if:
- History of liver disease due to a medical condition unrelated to Wilson disease.
- Liver fibrosis stage F3 or F4.
- Decompensated hepatic cirrhosis and/or evidence of portal hypertension.
- Marked neurological disease requiring either nasogastric feeding or intensive inpatient medical care.
- Female subject who is pregnant or breastfeeding or who plans to become pregnant at any time during the study.
- 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.
- Current or previous participation in a gene transfer study.
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (6)
Yale University School of Medicine
New Haven, Connecticut, 06510, United States
Jackson Memorial Hospital Miami Transplant Unit University of Miami Miller School of Medicine
Miami, Florida, 33136, United States
Northwestern University Feinberg School of Medicine
Chicago, Illinois, 60611, United States
University of Michigan Michigan Medicine Hepatology Clinic Taubman Center
Ann Arbor, Michigan, 48109, United States
Seattle Children's Hospital
Seattle, Washington, 98105, United States
Universitätsklinikum Heidelberg
Heidelberg, Baden-Wurttemberg, 69120, Germany
Related Links
Biospecimen
Whole blood sample for future UX701 related research (DNA, RNA, proteins)
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- STUDY DIRECTOR
Ultragenyx Medical Director
Ultragenyx Pharmaceutical
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
July 27, 2020
First Posted
August 28, 2020
Study Start
December 11, 2020
Primary Completion
March 25, 2022
Study Completion
March 25, 2022
Last Updated
April 29, 2022
Record last verified: 2022-04
Data Sharing
- IPD Sharing
- Will not share