NCT07301216

Off Treatment Urinary Copper Excretion in Wilson Disease, Pilot Study

Monitoring of Therapy in Wilson Disease With Off-Treatment Urinary Copper Excretion (OT-UCE): Comparison With Serum Non-Ceruloplasmin Copper (NCC) Assays

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 30 (estimated)
• Sponsor: Yale University · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Detailed 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 samples, obtain blood samples, perform a physical exam, and review safety evaluations (communication with study personnel) made during the study.

Conditions

• Wilson Disease

Timeline

• Start date: 2026-01-08
• Primary completion: 2028-06-30
• Completion: 2028-09-30
• First posted: 2025-12-24
• Last updated: 2026-03-05

Locations

1 site across 1 country: United States