Monitoring of Therapy in Wilson Disease With Off-Treatment Urinary Copper Excretion (OT-UCE): Comparison With Serum Non-Ceruloplasmin Copper (NCC) Assays
Yale University
Summary
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.
Description
Study procedures will include providing multiple urine samples over a 24-hour period, storing the urine samples, and returning them during the end-of-study visit. Blood samples will be collected to measure copper levels and liver function. An in-person end-of-study visit will be attended. Participation in this study will involve a brief stoppage of current Wilson Disease treatment. Participants will perform 24-hour urine collections and communicate with study personnel daily during the brief time medication is not taken. At the end-of-study visit, the investigators will collect urine sample…
Eligibility
- Age range
- 18+ years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Patients with Wilson Disease as defined by Leipzig score ≥4. * Provision of signed and dated informed consent form. * Stated willingness to comply with all study procedures (serial 24 h urine collections and local collection of samples for NCC, liver function and estimated GFR) and availability for the duration of the study. * Treated WD for at least 12 months prior to study entry. * Aminotransferase values (ASAT and ALAT) \< 2 times the upper limit of normal (ULN). * INR \< 1.5 or stable INR for those with initial elevated INR for at least six months prior to study entr…
Location
- Yale School of MedicineNew Haven, Connecticut