Actively Recruiting

Age: 18Years +
All Genders
ID07301216

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

Led by Yale University · Updated on 2026-03-05

30

Participants Needed

1

Research Sites

13 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

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 study's 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.

CONDITIONS

Brief Title

Off Treatment Urinary Copper Excretion in Wilson Disease, Pilot Study

Who Can Participate

Age: 18Years +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Patients diagnosed with Wilson Disease scoring 4 or higher on the Leipzig scale
  • Signed and dated informed consent form provided
  • Willingness to comply with all study procedures including 24-hour urine collections and local sample collections
  • Treated for Wilson Disease for at least 12 months before joining the study
  • Liver enzyme levels (ASAT and ALAT) less than twice the upper limit of normal
  • INR less than 1.5 or stable INR for those with previous elevation without anticoagulation treatment
  • Kidney function with estimated glomerular filtration rate (eGFR) greater than 30 cc/min
  • No changes in Wilson Disease therapy during the 6 months prior to joining the study
Not Eligible

You will not qualify if you...

  • Currently receiving dual or mixed therapy for Wilson Disease (e.g., zinc combined with penicillamine or trientine)
  • Currently pregnant or breastfeeding
  • Recent use of estrogen-based treatment within the last month
  • Cirrhosis with recent liver complications in the last 6 months such as ascites, bacterial peritonitis, variceal bleeding, or encephalopathy
  • Unable to complete required 24-hour urine collections or follow-up visits
  • History of non-compliance with therapy or low-copper diet that would affect urine copper evaluation
  • Positive pregnancy test before starting study intervention in childbearing-aged participants not from the registry

AI-Screening

AI-Powered Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Monitoring

Duration - 4 days

Participants will stop their Wilson Disease medication briefly and provide multiple 24-hour urine samples while communicating daily with study personnel. Blood samples will also be collected to measure copper levels and liver function.

Daily communication with study personnel and 24-hour urine collections over 4 days

End-of-Study Visit

Duration - 1 day

Participants attend an in-person visit where urine and blood samples are collected again, a physical exam is performed, and safety evaluations are reviewed.

1 visit (in-person)

Trial Site Locations

Total: 1 location

1

Yale School of Medicine

New Haven, Connecticut, United States, 06520

Actively Recruiting

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Research Team

S

Sefa Keserci, MD

H

Hatice Maras, MD

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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Published Research Related To This Trial

Biomedical copper speciation in relation to Wilson's disease using strong anion exchange chromatography coupled to triple quadrupole inductively coupled plasma mass spectrometry.

Nikolay Solovyev, Aftab Ala, Michael Schilsky...

https://pubmed.ncbi.nlm.nih.gov/31948584

Accurate non-ceruloplasmin bound copper: a new biomarker for the assessment and monitoring of Wilson disease patients using HPLC coupled to ICP-MS/MS.

Chris F Harrington, Geoff Carpenter, James P C Coverdale...

https://pubmed.ncbi.nlm.nih.gov/39072400