Monitoring Wilson Disease Treatment Using Off-Treatment Urinary Copper and Blood Copper Levels to Find the Best Testing Time

What this Trial Is About

Researchers are evaluating the best timing for measuring 24-hour urinary copper excretion UCE after temporarily stopping standard treatments in patients with Wilson Disease WD. The goal is to see if off-treatment UCE OT-UCE matches levels of non-ceruloplasmin-bound copper NCC, which could help confirm OT-UCE as a useful marker for copper levels and disease stability. This study focuses on stable WD patients who will pause their treatments briefly under close medical supervision. Participants will temporarily stop their current WD treatment and collect urine samples over 24 hours on days 1 through 4 after stopping medication. Blood samples will also be taken to measure copper levels and liver function. The study includes patients on three different therapies Zinc, Trientine, and Penicillamine, with OT-UCE and NCC measured for each treatment group. All urine samples will be stored and returned at the studys end. During the study, participants will communicate daily with study staff while off medication and attend an in-person end-of-study visit. At this visit, investigators will collect urine and blood samples, perform a physical exam, and review safety evaluations done during the study. The main outcomes measured are the mean concentrations of OT-UCE and NCC on days 1 to 4 after stopping treatment. Secondary outcomes include identifying the best time to perform OT-UCE testing for each medication. The entire process aims to improve monitoring of WD treatment and disease stability.

Off Treatment Urinary Copper Excretion in Wilson Disease, Pilot Study