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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.
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| Measure | Description | Time Frame |
|---|---|---|
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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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.
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| Name | Affiliation | Role |
|---|---|---|
| Ultragenyx Medical Director | Ultragenyx Pharmaceutical | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Yale University School of Medicine | New Haven | Connecticut | 06510 | United States | ||
| Jackson Memorial Hospital Miami Transplant Unit University of Miami Miller School of Medicine |
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| Label | URL |
|---|---|
| Ultragenyx Patient Advocacy/Wilson Disease Information | View source |
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| ID | Term |
|---|---|
| D006527 | Hepatolenticular Degeneration |
| ID | Term |
|---|---|
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
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Whole blood sample for future UX701 related research (DNA, RNA, proteins)
| 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 |
| D002493 |
| Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D009069 | Movement Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008664 | Metal Metabolism, Inborn Errors |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |