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Urine copper testing off treatment to monitor Wilson disease

Compares urine copper with blood copper tests in people with stable Wilson disease.

Key facts

Who runs it
Yale University
Where
New Haven, United StatesSee the site
Trial code
Registry title
Off Treatment Urinary Copper Excretion in Wilson Disease, Pilot Study
Status
Recruiting
People taking part
30 people, planned
Started
8 Jan 2026
Expected to end
30 Sept 2028
Type of study
Observational, 3 groups
Record updated
5 March 2026

Who can take part

AI summary

From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.

The trial is looking for adults with stable Wilson disease who have been treated for at least 12 months. Their treatment will be paused for a while under close monitoring to measure copper in urine and blood.

Age
18 Years and older
Sex
All sexes
Disease stage
Wilson disease with a Leipzig score of 4 or more. The disease must be stable: liver enzymes (ASAT and ALAT) below 2 times the upper limit of normal, INR below 1.5 or stable for at least six months without blood thinners, and kidney function (eGFR) above 30 cc/min.
Earlier treatment
Treatment for Wilson disease for at least 12 months before joining. No change in this treatment in the last 6 months. Only one Wilson disease medicine at a time (zinc, trientine or penicillamine).
Biomarker or test result
Leipzig score of 4 or more.

Main reasons for not taking part

  • Taking two Wilson disease medicines at the same time, such as zinc together with d-penicillamine or trientine
  • Being pregnant or breastfeeding; people who could become pregnant need negative urine pregnancy tests
  • Estrogen-based treatment in the last month
  • Cirrhosis with a recent worsening of the liver in the last 6 months, such as new fluid in the belly, belly infection, bleeding from veins in the food pipe, or confusion caused by the liver
  • Not taking treatment or not following the low-copper diet in the past, or being unable to do the 24-hour urine collections and follow-up visits

The registry criteria, word for word

Show all 14 criteriaShow less

Who can take part

  • 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 entry in the absence of anticoagulation therapy
  • Renal function defined as eGFR > 30 cc/min
  • No change of WD therapy during the previous 6 months of study enrollment

Who cannot take part

  • Current dual / mixed therapy for WD (i.e. zinc and d-penicillamine or trientine at the same time)
  • Previous non-compliance for therapy and/or to low-copper diet that would compromise the evaluation of previous UCE and/ or results from the off-treatment period; Childbearing aged patients recruited outside of the registry will be reviewed, and the patients will be asked to perform an initial urine pregnancy test prior to the recommended blood testing (approximately 60 to 90 days prior to intervention). They will be permitted to continue with the screening process if the result is negative. They will be asked to perform a second urine pregnancy test as close as possible prior to study intervention (discontinuation of treatment). If the result of the second pregnancy test is negative they will be permitted to continue with the protocol, but if the result is positive they will be excluded from further participation at that time; Childbearing aged patients recruited from the registry who meet inclusion criteria and may move directly to the study intervention will be required to perform a urine pregnancy test as close as possible to the time prior to the initiation of the study protocol (discontinuation of treatment)
  • Cirrhosis with recent hepatic decompensation (within the last 6 months) - new onset of ascites, spontaneous bacterial peritonitis, esophageal variceal bleeding, or hepatic encephalopathy
  • Current Pregnancy or lactation. *
  • Recent estrogen-based treatment (in the last month)
  • Investigator believes the patient will be unable to do the required 24-hour urine studies and participate in the follow up visits as expected

Where in United States

  • Yale School of MedicineNew Haven, United StatesContact: Sefa Keserci, MDTaking people

About the trial

What the trial wants to find out

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.

The 3 groups in the trial

  • OT-UCE and NCC for Zinc treated WD patients

    OT-UCE and NCC will be measured in WD patients on Zinc therapy

  • OT-UCE and NCC for Trientine treated WD patients

    OT-UCE and NCC will be measured in WD patients on trientine therapy

  • OT-UCE and NCC for Penicillamine treated WD patients

    OT-UCE and NCC will be measured in WD patients on Penicillamine therapy

Questions to ask the study team

  1. How often do I need to come in, and for how long each time?
  2. Are travel costs paid?
  3. Can I keep my own doctor?
  4. What happens if I want to stop?

Contact the study team: see the registry record → Contacts and Locations

Print a page for my doctor

Data and sources

Registry record
Listed on ClinicalTrials.gov.
Official title
Monitoring of Therapy in Wilson Disease With Off-Treatment Urinary Copper Excretion (OT-UCE): Comparison With Serum Non-Ceruloplasmin Copper (NCC) Assays
Plain-language title
Urine copper testing off treatment to monitor Wilson diseaseGenerated from the registry record. The registry title is the official one.
AI summary
From the trial's eligibility criteria. Read by machine on 15 November 2026.
Record updated
5 March 2026