Actively Recruiting
Off Treatment Urinary Copper Excretion in Wilson Disease, Pilot Study
Led by Yale University · Updated on 2026-03-05
30
Participants Needed
1
Research Sites
142 weeks
Total Duration
On this page
Sponsors
Y
Yale University
Lead Sponsor
N
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Collaborating Sponsor
AI-Summary
What this Trial Is About
This is a prospective study that will determine the optimal timing for 24-hour urinary copper excretion (UCE) measurement after temporary discontinuation of standard therapies in Wilson Disease (WD) patients. The primary objective is to assess whether off-treatment UCE (OT-UCE) correlates with non-ceruloplasmin-bound copper (NCC) levels, aiming to validate OT-UCE as a surrogate marker for systemic copper bioavailability and disease stability. Stable WD patients will be enrolled, temporarily taken off treatment under close monitoring, and undergo UCE and NCC testing. If OT-UCE is validated, it could serve as a practical biomarker for monitoring WD treatment and stability in clinical practice and future trials.
CONDITIONS
Official Title
Off Treatment Urinary Copper Excretion in Wilson Disease, Pilot Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients diagnosed with Wilson Disease using a Leipzig score of 4 or higher
- Signed and dated informed consent form provided
- Willingness to follow all study procedures including serial 24-hour urine collections and sample collections for NCC, liver function, and kidney function
- Availability to participate for the full study duration
- Treated for Wilson Disease for at least 12 months before joining the study
- Aminotransferase (ASAT and ALAT) levels less than 2 times the upper limit of normal
- INR less than 1.5 or stable INR for at least 6 months prior if initially elevated, without anticoagulation therapy
- Kidney function with estimated glomerular filtration rate (eGFR) above 30 cc/min
- No changes in Wilson Disease therapy during the 6 months before joining the study
You will not qualify if you...
- Current use of dual or mixed therapy for Wilson Disease (e.g., zinc and d-penicillamine or trientine at the same time)
- Current pregnancy or breastfeeding
- Recent estrogen-based treatment within the last month
- Cirrhosis with recent liver decompensation events within the last 6 months such as new ascites, bacterial peritonitis, esophageal variceal bleeding, or hepatic encephalopathy
- Inability to complete required 24-hour urine collections or follow-up visits as expected
- Previous non-compliance with therapy or low-copper diet that may affect urine copper excretion evaluation
- For patients of childbearing age not in the registry: a negative urine pregnancy test prior to blood testing and prior to stopping treatment is required; positive tests exclude participation
- For childbearing age patients recruited from the registry: a negative urine pregnancy test before starting the study protocol is required
AI-Screening
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Trial Site Locations
Total: 1 location
1
Yale School of Medicine
New Haven, Connecticut, United States, 06520
Actively Recruiting
Research Team
S
Sefa Keserci, MD
CONTACT
H
Hatice Maras, MD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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