Real World Evidence Study in Subjects With Wilson's Disease
REASON
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
1 other identifier
observational
50
1 country
9
Brief Summary
This non-interventional Real-World Evidence (RWE) study aims to describe non-ceruloplasmin copper values obtained using a new NCC Speciation assay by taking a small (up to 10mLs) volume of additional blood from patients with Wilson's Disease, around the time when routine blood sampling is expected to be scheduled by the treating physician. Data will be collected over an approximate 12-month period.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for all trials
Started Jun 2023
Typical duration for all trials
9 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
March 13, 2023
CompletedFirst Posted
Study publicly available on registry
March 24, 2023
CompletedStudy Start
First participant enrolled
June 28, 2023
CompletedPrimary Completion
Last participant's last visit for primary outcome
September 12, 2025
CompletedStudy Completion
Last participant's last visit for all outcomes
September 12, 2025
CompletedOctober 29, 2025
June 1, 2025
2.2 years
March 13, 2023
October 27, 2025
Conditions
Outcome Measures
Primary Outcomes (1)
The distribution of Non-Ceruloplasmin bound Copper (NCC) in serum as assessed by a NCC-speciation LC-ICP-MS assay (NCC-Sp), at study entry and over an approximate 12-month period from a real-world population of WD patients.
The distribution of NCC-Sp will be assessed as a diagnostic value, to be used for adjusting chelation therapy in Wilson Disease.
Approx 12 Months
Study Arms (4)
A - Newly diagnosed
Newly diagnosed (DPA/Trientine/Zinc for \< 28 days)
B - D-penicillamine
D-penicillamine
C - Zinc
Zinc
D - Trientine (2HCl or 4HCl)
Trientine (2HCl or 4HCl)
Interventions
Orphalan has developed a new NCC speciation assay (NCC-Sp) using liquid chromatography inductively coupled plasma mass spectroscopy (LC-ICP-MS) to measure serum copper and ceruloplasmin bound copper from which non ceruloplasmin bound copper (NCC) is estimated.
Eligibility Criteria
Adult patients (≥ 18 years old) with Wilson's Disease
You may qualify if:
- Willing and able to give informed consent for participation in the study
- Male or female patients, aged 18 years or older as of signing the Informed Consent Form (ICF)
- Able and willing to comply with study procedures and requirements, as judged by the treating physician
- Established diagnosis of Wilson's Disease (Leipzig score \>4)
- Either newly diagnosed or with elevated liver enzymes (defined as ALT, AST ≥1.5xULN) or 24-hour urinary copper excretion outside of recommended ranges \[chelation range 200-500mcg/24 hr; zinc \< 100mcg/24 hr\]
- Adequate venous access to allow collection of blood samples
You may not qualify if:
- Major systemic disease or other illness that would, in the opinion of the investigator, compromise patient safety or interfere with the collection or interpretation of the study results.
- Patients with a New Wilson's Disease Index Score of \>7
- In the opinion of the investigator, the patient is likely to be non-compliant or uncooperative for routine clinical visits during the study.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Orphalanlead
Study Sites (9)
UC Davis Midtown Ambulatory Care Centre
Sacramento, California, 95817, United States
Yale University School of Medicine
New Haven, Connecticut, 06520, United States
University of Miami
Miami, Florida, 33136, United States
Advent Health Orlando
Orlando, Florida, 32803, United States
Northwestern University Chicago (Hepatologist)
Chicago, Illinois, 60611, United States
John Hopkins Hospital
Baltimore, Maryland, 21287, United States
University of Michigan
Ann Arbor, Michigan, 48109, United States
New York Presbyterian Hospital-Columbia University Medical Centre
New York, New York, 10032, United States
Vanderbilt University Medical Centre
Nashville, Tennessee, 37212, United States
Biospecimen
Central laboratory blood samples taken for the study (i.e. not part of standard of care) may be kept for up to 5 years for additional testing (metal analyses). Up to 10mLs of blood should be collected for analysis of NCC-Sp, serum total copper and serum ceruloplasmin, copper fraction associated with ceruloplasmin and serum zinc levels at each study visit.
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Mike Schilsky
Yale University School of Medicine, New Haven, Connecticut
Study Design
- Study Type
- observational
- Observational Model
- OTHER
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
March 13, 2023
First Posted
March 24, 2023
Study Start
June 28, 2023
Primary Completion
September 12, 2025
Study Completion
September 12, 2025
Last Updated
October 29, 2025
Record last verified: 2025-06